The following Conditions are related to P

Select a specific condition below to view its details.

  • Acanthocytosis-neurologic disorder

    Neuroacanthocytosis is a general term for a group of rare progressive disorders characterized by the association of misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. Chorea, which is characterized by rapid, involuntary, purposeless movements, especially of the face, feet and hands, is the most common movement disorder associated with neuroacanthocytosis. Additional symptoms often d  Read More

  • Agenesis of commissura magna cerebri

    Agenesis of corpus callosum (ACC) is a rare disorder that is present at birth (congenital). It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. This part of the brain is normally composed of transverse fibers. The cause of agenesis of corpus callosum is usually not known, but it can be inherited as either an autosomal recessive trait or an X-linked dominant trait.  Read More

  • Alzheimer's disease

    At first, increasing forgetfulness or mild confusion may be the only symptoms of Alzheimer's disease that you notice. But over time, the disease robs you of more of your memory, especially recent memories. The rate at which symptoms worsen varies from person to person. If you have Alzheimer's, you may be the first to notice that you're having unusual difficulty remembering things and organizing your thoughts. Or you may not recognize t  Read More

  • Aneurysm

    Abdominal aortic aneurysms often grow slowly and usually without symptoms, making them difficult to detect. Some aneurysms will never rupture. Many start small and stay small, although many expand over time. Others expand quickly. Predicting how fast an abdominal aortic aneurysm may enlarge is difficult. As an abdominal aortic aneurysm enlarges, some people may notice: A pulsating feeling near the navel Deep, c  Read More

  • Asperger's syndrome (asperger syndrome, asperger disorder)

    Asperger's syndrome (asperger syndrome, asperger disorder) belongs to a group of neurodevelopment conditions known as an autism spectrum disorder (ASD). It has no official diagnosis. Generally, the patients with this disorder are just as smart as other folks, but they have more trouble with social skills with an obsessive focus on one topic or perform the same behaviors again and again. Asperger's syndrome is no longer a  Read More

  • Azorean neurologic disease

    Azorean neurologic disease is one of the 40 types of spinocerebellar ataxia (SCA). It is the third type and is called type 3 SCA. Mutations in the gene that codes for the protein ataxin-3 cause the disease. Particularly, the gradual expansion of the CAG repeats is the cause. Normal ataxin-3 is involved in protein homeostasis and cytoskeleton regulation in the central nervous system. The abnormal ataxin protein leads to the los  Read More

  • Baillarger's syndrome

    Frey syndrome is a rare disorder that most often occurs as a result of surgery in the area near the parotid glands. The parotid glands are the largest salivary glands in the body located just below the ears on either side of the face. The main symptoms of Frey syndrome are undesirable sweating and flushing occurring on the cheek, temple (temporal region), or behind the ears (retroauricular region) after eating certain foods, especially those t  Read More

  • Batten disease

    Batten disease is the common name for a group of lysosomal storage disorders called neuronal ceroid lipofuscinoses. There are 14 forms of the disease, and they primarily affect the eyes and the central nervous system. The diseases can be classified into four groups: infantile, late-infantile, juvenile, and adult-onset forms. Patients commonly present progressive cognitive and visual impairments, epileptic seizures, and deterio  Read More

  • Batten-mayou syndrome

    Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Batten disease is sometimes considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by abnormal accumulation of certain fatt  Read More

  • Batten-vogt syndrome

    Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Batten disease is sometimes considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by abnormal accumulation of certain fatt  Read More

  • Bell's palsy

    Signs and symptoms of Bell's palsy come on suddenly and may include: Rapid onset of mild weakness to total paralysis on one side of your face — occurring within hours to days Facial droop and difficulty making facial expressions, such as closing your eye or smiling Drooling Pain around the jaw or in or behind your ear on the affected side Increased sensitivity to sound on the affecte  Read More

  • Bilirubin encephalopathy

    Kernicterus is a rare neurological disorder characterized by excessive levels of bilirubin in the blood (hyperbilirubinemia) during infancy. Bilirubin is an orange-yellow bile pigment that is a byproduct of the natural breakdown of hemoglobin in red blood cells (hemolysis). Toxic levels of bilirubin may accumulate in the brain, potentially resulting in a variety of symptoms and physical findings. These symptoms may include lack of energy (leth  Read More

  • Botulism

    Foodborne botulism Signs and symptoms of foodborne botulism typically begin between 12 and 36 hours after the toxin gets into your body. But, depending on how much toxin was consumed, the start of symptoms may range from a few hours to a few days. Signs and symptoms of foodborne botulism include: Difficulty swallowing or speaking Dry mouth Facial weakness on both sides of the face Blurred  Read More

  • Brachial neuritis

    Parsonage-Turner syndrome is a relatively common condition characterized by inflammation of the network of nerves that control and supply (innervate) the muscles of the chest, shoulders, and arms (brachial plexus). Individuals with the condition first experience a sudden onset of severe pain across the shoulder and upper arm. The muscles of the affected shoulder show weakness, wasting (atrophy), and paralysis (atrophic paralysis) within a few  Read More

  • Brachial plexus neuritis

    Parsonage-Turner syndrome is a relatively common condition characterized by inflammation of the network of nerves that control and supply (innervate) the muscles of the chest, shoulders, and arms (brachial plexus). Individuals with the condition first experience a sudden onset of severe pain across the shoulder and upper arm. The muscles of the affected shoulder show weakness, wasting (atrophy), and paralysis (atrophic paralysis) within a few  Read More

  • Brachial plexus palsy

    Brachial plexus palsy, also known as Erb's palsy, is a paralysis or weakness of the arm caused by an injury to one or more nerves that control and supply the muscles of the shoulder and upper extremities (upper brachial plexus). It is more commonly seen in newborns (neonates) and is often the result of a difficult delivery. When it occurs in adults, the cause typically is an injury that has caused stretching, tearing or other trauma to the bra  Read More

  • Brain aneurysm(cerebral aneurysm)

    A brain aneurysm(cerebral aneurysm) is a dilation along the arterial circulation within the brain. About 85% of the dilations occur in the anterior circulation, which supplies blood to the anterior parts of the brain. The causes include: hemodynamic stress on the internal elastic lamina, vibrations from the turbulence of blood flow, and T-lymphocytes and macrophages mediated inflammation. Patients with advanced age, hypertensi  Read More

  • Brain tumor

    The signs and symptoms of a brain tumor vary greatly and depend on the brain tumor's size, location and rate of growth. General signs and symptoms caused by brain tumors may include: New onset or change in pattern of headaches Headaches that gradually become more frequent and more severe Unexplained nausea or vomiting Vision problems, such as blurred vision, double vision or loss of peripher  Read More

  • Brain tumor - polyposis syndrome

    Turcot syndrome is a rare inherited disorder characterized by the association of benign growths (adenomatous polyps) in the mucous lining of the gastrointestinal tract with tumors of the central nervous system. Symptoms associated with polyp formation may include diarrhea, bleeding from the end portion of the large intestine (rectum), fatigue, abdominal pain, and weight loss. Affected individuals may also experience neurological symptoms, depe  Read More

  • Brain tumors, general

    A brain tumor, general, is the mass growth of abnormal cells in the brain. There are different types of brain tumors, some are noncancerous (benign), and some brain tumors are cancerous (malignant). This can begin in the brain or some type of cancer begins in other parts of the body and spreads to the brain. The treatment of brain tumors depends on the location, size and type of tumor. 1. Treatment of brain tumors  Read More

  • Brain, micropolygyria

    Fukuyama type congenital muscular dystrophy (FCMD) is one of several forms of a rare type of muscular dystrophy known as congenital muscular dystrophy. It is inherited as an autosomal recessive trait. Symptoms of this disorder are apparent at birth and progress slowly. In addition to general muscle weakness and deformities of the joints (contractures), FCMD is often accompanied by seizures, mental retardation and speech problems. This disorder  Read More

  • Branched chain ketonuria i

    Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to breakdown (metabolize) specific amino acids in the body. Because these amino acids are not metabolized, they, along with their various byproducts, abnormally accumulate in the cells and fluids of the body. Such accumulation can cause a variety of symptoms including letharg  Read More

  • Carotid artery disease

    In its early stages, carotid artery disease often doesn't produce any signs or symptoms. The condition may go unnoticed until it's serious enough to deprive your brain of blood, causing a stroke or TIA. Signs and symptoms of a stroke or TIA include: Sudden numbness or weakness in the face or limbs, often on only one side of the body Sudden trouble speaking and understanding  Read More

  • Charcot-marie-tooth type 4e

    Congenital hypomyelination neuropathy (CHN) is a neurological disorder present at birth. Major symptoms may include respiratory difficulty, muscle weakness and incoordination, poor muscle tone (neonatal hypotonia), absence of reflexes (areflexia), difficulty in walking (ataxia), and/or impaired abilities to feel or move part of the body.  Read More

  • Charge syndrome

    CHARGE syndrome is a rare disorder that arises during early fetal development and affects multiple organ systems. The term CHARGE comes from the first letter of some of the more common features seen in these children: (C) = coloboma (usually retinochoroidal) and cranial nerve defects (80-90%)(H) = heart defects in 75-85%, especially tetralogy of Fallot(A) = atresia of the choanae (blocked nasal breathing passages) (50-6  Read More

  • Chiari i syndrome

    Chiari-Frommel Syndrome is a rare endocrine disorder that affects women who have recently given birth (postpartum) and is characterized by the over-production of breast milk (galactorrhea), lack of ovulation (anovulation), and the absence of regular menstrual periods (amenorrhea). In Chiari-Frommel Syndrome, these symptoms persist long (for more than six months) after childbirth. The absence of normal hormonal cycles may result in reduced size  Read More

  • Chiari's disease

    Budd-Chiari syndrome is a rare disorder characterized by narrowing and obstruction (occlusion) of the veins of the liver (hepatic veins). Symptoms associated with Budd Chiari syndrome include pain in the upper right part of the abdomen, an abnormally large liver (hepatomegaly), and/or accumulation of fluid in the space (peritoneal cavity) between the two layers of the membrane that lines the stomach (ascites). Additional findings that may be a  Read More

  • Childhood giant axonal neuropathy

    Giant axonal neuropathy is a rare neuropathy that severely affects the peripheral as well as the central nervous system. The first symptoms appear in early childhood. This disorder is characterized by abnormalities in the peripheral and central nervous systems including low muscle tone (hypotonia), muscle weakness, decreased reflexes, impaired muscle coordination (ataxia), seizures and intellectual disability. Pale, tightly curled hair is freq  Read More

  • Cleidocranial dysplasia

    A rare condition known as cleidocranial dysplasia is often inherited as an autosomal dominant genetic characteristic. People who are affected can display a variety of symptoms (variable expression). 1. When just one copy of a defective gene is required for the disease to manifest, dominant genetic diseases result. 2. The faulty gene may be brought on by a new mutation (gene alteration) in the sick person, or  Read More

  • Cmt4e

    Congenital hypomyelination neuropathy (CHN) is a neurological disorder present at birth. Major symptoms may include respiratory difficulty, muscle weakness and incoordination, poor muscle tone (neonatal hypotonia), absence of reflexes (areflexia), difficulty in walking (ataxia), and/or impaired abilities to feel or move part of the body.  Read More

  • Cochin jewish disorder

    Haim-Munk syndrome is a rare genetic disorder characterized by the development of red, scaly thickened patches of skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis), frequent pus-producing (pyogenic) skin infections, overgrowth (hypertrophy) of the fingernails and toenails (onychogryposis), and degeneration of the structures that surround and support the teeth (periodontosis). Periodontosis usually results in th  Read More

  • Cockayne syndrome

    Cockayne Syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three signs (1) growth retardation, i.e. short stature, (2) abnormal sensitivity to light (photosensitivity), and (3) prematurely aged appearance (progeria). In the classical form of Cockayne Syndrome (CS type I) the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenit  Read More

  • Cockayne syndrome type ii

    Cerebro-oculo-facio-skeletal (COFS) syndrome is a genetic degenerative disorder of the brain and spinal cord that begins before birth. The disorder is characterized by growth failure at birth and little or no neurological development, structural abnormalities of the eye and fixed bending of the spine and joints. Abnormalities of the skull, face, limbs and other parts of the body may also occur. COFS syndrome is inherited as an autosomal recess  Read More

  • Cod-md syndrome

    Walker-Warburg syndrome (WWS) is a rare multisystem disorder characterized by muscle, brain and eye abnormalities, often leading to death in the first weeks of life. However, the specific symptoms and severity of WWS can vary greatly from case to case. The most consistent features are (1) a smooth appearance of the surface of the brain due to lack of normal folding pattern (lissencephaly or agyria), often with malformations of other brain stru  Read More

  • Compartment syndrome

    Compartment syndrome describes increased pressure within a muscle compartment of the arm or leg. It is most often due to injury, such as fracture, that causes bleeding in a muscle, which then causes increased pressure in the muscle. This pressure increase causes nerve damage due to decreased blood supply. Symptoms include severe pain, numbness, and decreased range of motion. Surgery (fasciotomy) is the only treatment f  Read More

  • Craniofrontonasal dysostosis

    Craniofrontonasal dysplasia is a very rare inherited disorder characterized by abnormalities of the head and face (craniofacial area), hands and feet, and certain skeletal bones. Major symptoms of this disorder may include widely spaced eyes (ocular hypertelorism), a groove (cleft) on the tip of the nose, an unusually wide mouth, malformations of the fingers and toes, and/or underdevelopment of portions of the face (midface hypoplasia), such a  Read More

  • Craniofrontonasal syndrome

    Craniofrontonasal dysplasia is a very rare inherited disorder characterized by abnormalities of the head and face (craniofacial area), hands and feet, and certain skeletal bones. Major symptoms of this disorder may include widely spaced eyes (ocular hypertelorism), a groove (cleft) on the tip of the nose, an unusually wide mouth, malformations of the fingers and toes, and/or underdevelopment of portions of the face (midface hypoplasia), such a  Read More

  • Creutzfeldt-jakob disease

    Creutzfeldt-Jakob disease is marked by rapid mental deterioration, usually within a few months. Initial signs and symptoms typically include: Personality changes Anxiety Depression Memory loss Impaired thinking Blurred vision or blindness Insomnia Difficulty speaking Difficulty swallowing Sudden, jerky movements As the disea  Read More

  • Cutaneous malignant melanoma, hereditary

    Cutaneous Malignant Melanoma, hereditary, is also named dysplastic nevus syndrome. It is atypical mole syndrome. It is a skin disorder. There appears to be the presence of mole-like tumors on the skin, near about more than 100 moles over the body, which are atypical in size and structure. There can be any size, color or location of the moles. The normal moles are of the size of 5mm or more in diameter, but if ther  Read More

  • Cystoid macular degeneration

    Cystoid macular degeneration is an autosomal dominant genetic form of macular degeneration. It starts in childhood or adolescence. Later, it affects the central vision. The best vitelliform macular dystrophy is related to an abnormality in the VMD2 gene. The early symptoms of cystoid macular degeneration are not noticeable. The other symptoms include blurry vision, faded colours, distorted central vision, and loss of vision. I  Read More

  • Dancing eyes-dancing feet

    Opsoclonus-myoclonus syndrome (OMS) is a paraneoplastic neurological disorder. It is characterized by associated ocular, motor, behavioral, sleep, and language disturbances. The onset is usually abrupt, often severe, and can become chronic.  Read More

  • De-efferented state

    Locked-in syndrome is a rare neurological disorder in which there is complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes. Individuals with locked-in syndrome are conscious and awake, but have no ability to produce movements (outside of eye movement) or to speak (aphonia). Cognitive function is usually unaffected. Communication is possible through eye movements or blinking. Locked-in syndrome i  Read More

  • Degos-kohlmeier disease

    Degos disease is an extremely rare disorder in which small and medium sized arteries become blocked (occlusive arteriopathy), restricting the flow of blood to affected areas. Degos disease usually causes characteristic skin lesions that may last for a period of time ranging from weeks to years. In some individuals, Degos disease will be limited to the skin (benign cutaneous Degos disease); other individuals will also develop symptoms affecting  Read More

  • Dmc disease

    Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability. The condition was first reported by Dyggve, Melchior and Clausen in 1962 in three of eight siblings where the father was the mother's paternal uncle. Because of physical appearance and the present of acid mucopolysaccharides in the urine, Dyggve believed that their affected pat  Read More

  • Dupuy's syndrome

    Dupuytren's syndrome is a hand deformity that usually develops over the years. The condition affects a layer of tissue that lies under the skin of your palm. Treatment involves removing or breaking apart the cords that are pulling your fingers toward your palm. This can be done in several ways. The choice of procedure depends on the severity of your symptoms and other health problems you may have. 1. Needlin  Read More

  • Dural endothelioma

    A Dural endothelioma is a tumor that arises from the meninges — the membranes that surround the brain and spinal cord. Although not technically a brain tumor, it is included in this category because it may compress or squeeze the adjacent brain, nerves and vessels. Dural endothelioma is the most common type of tumor that forms in the head. Most Dural endothelioma grow very slowly, often over many years, with  Read More

  • Dutch-kennedy syndrome

    Trismus-Pseudocamptodactyly Syndrome is a very rare inherited disorder characterized by the inability to completely open the mouth (trismus), causing difficulty with chewing (mastication) and/or the presence of abnormally short muscle-tendon units in the fingers, causing the fingers to curve or bend (camptodactyly) when the hand is bent back at the wrist (dorsiflexion). Because the fingers are not permanently bent or curved, this particular fi  Read More

  • Eec syndrome

    Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another. Affected individuals often have abnormalities affecting the limbs, including ectrodactyly, a condition in which part or all of the central digits (fingers or toes) are missing. Ectrodactyly often affects the middle fingers or toes but can present differently in different people (or  Read More

  • Encephalitis, herpes simplex

    Herpes simplex encephalitis (HSE) is a rare neurological disorder characterized by inflammation of the brain (encephalitis). Common symptoms include headaches, fevers, drowsiness, hyperactivity, and/or general weakness. The disorder may have some symptoms similar to those associated with meningitis, such as a stiff neck, altered reflexes, confusion, and/or speech abnormalities. Skin lesions usually are not found in association with herpes simp  Read More

  • Encephalitis, japanese

    Japanese Encephalitis is a severe inflammation of the brain caused by the Japanese B Encephalitis Virus that is transmitted by the bite of infected mosquitoes in certain areas of the world, particularly Asia. This disorder most commonly affects children and tends to be more actively spread during the summer. Symptoms include high fever, headaches, weakness, nausea, vomiting, paralysis, personality changes, and coma, possibly leading to neurolo  Read More

  • Encephalitis, rasmussen's

    Rasmussen encephalitis, sometimes referred to as Rasmussen syndrome, is a rare disorder of the central nervous system characterized by chronic inflammation (encephalitis) of one hemisphere of the brain. As a result, the patient experiences frequent episodes of uncontrolled electrical disturbances in the brain that cause epileptic seizures (epilepsy). Further symptoms may include progressive weakness of one side of the body (hemiparesis), langu  Read More

  • Encephalocele

    An uncommon illness called encephalocele that develops before birth (congenital). Typically, the third and fourth weeks of pregnancy are when the brain and spinal cord develop. The neural tube is how they are created. The majority of encephaloceles develop when the neural tube is not completely closed. When the baby's brain, neurological system, and skull are just beginning to form, this should take place. Brain tissue and spi  Read More

  • Epilepsy and multiple subpial transection (mst)

    Epilepsy is a central nervous system (neurological) disorder in which brain activity becomes abnormal, causing seizures or periods of unusual behavior, sensations and sometimes loss of awareness Anyone can develop epilepsy. Epilepsy and multiple subpial transection (MST) affects both males and females of all races, ethnic backgrounds and ages Because epilepsy is caused by abnormal activity in the brain, seiz  Read More

  • Epilepsy and temporal lobe resection

    temporal lobe resection is a treatment not a disorder  Read More

  • Epilepsy, myoclonic progressive familial

    More than 10 uncommon "progressive" epilepsies are grouped together as epilepsy, myoclonic progressive familial. The motor abilities, balance, and cognitive function of people with myoclonic progressive families deteriorate over time.Myoclonic and tonic-clonic seizures coexist in myoclonic progressive familial (rapid muscle jerks of multiple body parts). Unsteadiness, muscle rigidity (tightness of the muscles), bal  Read More

  • Epilepsy: extratemporal cortical resection

    Epilepsy is a central nervous system (neurological) disorder in which brain activity becomes abnormal, causing seizures or periods of unusual behavior, sensations and sometimes loss of awareness . Anyone can develop epilepsy. Epilepsy affects both males and females of all races, ethnic backgrounds and ages ecause epilepsy is caused by abnormal activity in the brain, seizures can affect any process your brain coordinates. Seizure signs and symp  Read More

  • Epilepsy: vagus nerve stimulation (vns)

    Employing a device to deliver electrical impulses to the vagus nerve is known as vagus nerve stimulation (VNS). The application of an implantable vagus stimulator to treat epilepsy is officially approved by the FDA. Each side of your body has one vagus nerve, which travels from your brainstem through your neck to your chest and belly. A neurological condition called epilepsy affects the brain and increases the ris  Read More

  • Erb-duchenne palsy

    Brachial plexus palsy, also known as Erb's palsy, is a paralysis or weakness of the arm caused by an injury to one or more nerves that control and supply the muscles of the shoulder and upper extremities (upper brachial plexus). It is more commonly seen in newborns (neonates) and is often the result of a difficult delivery. When it occurs in adults, the cause typically is an injury that has caused stretching, tearing or other trauma to the bra  Read More

  • Facio-auriculo-vertebral spectrum

    Oculo-auriculo-vertebral spectrum (OAVS) refers to three rare disorders that many clinicians believe to be intimately related to one another and which represent the range of severity of the same disorder. These disorders are apparent at birth (congenital). As the name suggests, they involve malformations of the eyes, ears and spine. Oculo-auriculo-vertebral disorder (OAVD) represents the mildest form of the disorder, while Goldenha  Read More

  • Faciogenital dysplasia

    Facial, limb, and genital deformities are common in faciogenital dysplasia, an extremely rare genetic disorder. In some cases, certain forms of cognitive impairments may also exist. Up till now, faciogenital dysplasia has only been linked to one gene, the FGD1 gene on the X chromosome. Treatment 1. Faciaogeny dysplasia treatment focuses on the distinctive symptoms that are present in each patient.  Read More

  • Fahr disease

    Familial idiopathic basal ganglia calcification (FIBGC) is a rare neurological disorder characterized by the presence of abnormal calcium deposits (calcifications) of unknown cause. Associated symptoms include progressive deterioration of cognitive abilities (dementia), loss of contact with reality (psychosis), mood swings and loss of acquired motor skills. As the condition progresses, paralysis may develop that is associated with increased mu  Read More

  • Fothergill disease

    Trigeminal neuralgia, also known as tic douloureux, is a disorder of the fifth cranial nerve (trigeminal nerve) characterized by attacks of intense, stabbing pain affecting the mouth, cheek, nose, and/or other areas on one side of the face. The exact cause of trigeminal neuralgia is not fully understood.  Read More

  • Francois dyscephaly syndrome

    Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye abnormalities; dental defects; degenerative skin changes (atrophy), particularly in the scalp and nasal regions; and proportionate short stature. Characteristic craniofacial features include a short, broad head (brachycephaly) with an unusually  Read More

  • Friedreich's tabes

    Friedreich's Ataxia is a genetic, progressive, neurologic movement disorder that typically becomes apparent before adolescence. Initial symptoms may include unsteady posture, frequent falling, and progressive difficulties walking due to an impaired ability to coordinate voluntary movements (ataxia). Affected individuals may also develop abnormalities of certain reflexes; characteristic foot deformities; increasing incoordination of the arms an  Read More

  • Frontofacionasal dysplasia

    Frontofacionasal dysplasia is a rare genetic disorder that is apparent at birth (congenital). The disorder is primarily characterized by malformations of the head and facial (craniofacial) area and eye (ocular) defects. Craniofacial malformations may include an unusually short, broad head (brachycephaly); incomplete closure of the roof of the mouth (cleft palate); an abnormal groove in the upper lip (cleft lip); and underdevelopment (hypoplasi  Read More

  • Frontotemporal dementia

    Identifying precisely which diseases fall into the category of frontotemporal dementia presents a particular challenge to scientists. The signs and symptoms may vary greatly from one individual to the next. Researchers have identified several clusters of symptoms that tend to occur together and are dominant in subgroups of people with the disorder. More than one symptom cluster may be apparent in the same person. The signs and  Read More

  • Galactosyl ceramide lipidosis

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Galactosylceramidase deficiency

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Galactosylceramide lipidosis

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Galb deficiency

    At birth, infants with galb deficiency appear healthy, but by 8 to 15 months, they stop growing and start losing their learned skills (developmental regression). Affected people experience seizures and blindness as the illness worsens, and gradually they lose consciousness of their surroundings and become slow to react. Most people who have this type of illness do not live into early childhood. Children with the c  Read More

  • Globoid cell leukoencephalopathy

    Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This  Read More

  • Growth hormone receptor deficiency

    A series of exceedingly rare genetic abnormalities known as growth hormone receptor deficiency prevents the body from using the growth hormone it produces. Growth hormone receptor deficiency can result from mutations in the growth hormone receptor (GHR) gene or in genes involved in the cell's action pathway after the growth hormone binds to its receptor. These mutations prevent the production of insulin-like growth factor (IG  Read More

  • Guillain-barre syndrome

    Guillain-Barre (gee-YAH-buh-RAY) syndrome is a rare disorder in which your body's immune system attacks your nerves. Weakness and tingling in your extremities are usually the first symptoms. These sensations can quickly spread, eventually paralyzing your whole body. In its most severe form Guillain-Barre syndrome is a medical emergency. Most people with the condition must be hospitalized to receive treatment. The exact cause of  Read More

  • Haddad syndrome

    Normal breathing is impaired by Haddad syndrome, a condition. People with this illness frequently hyperventilate while sleeping, which causes a deficiency in oxygen and an accumulation of carbon dioxide in the blood. The autonomic nervous system, which regulates unconscious bodily functions, would typically respond to such an imbalance by causing the person to wake up or breathe deeply. People with Haddad syndrome  Read More

  • Hard syndrome

    Walker-Warburg syndrome (WWS) is a rare multisystem disorder characterized by muscle, brain and eye abnormalities, often leading to death in the first weeks of life. However, the specific symptoms and severity of WWS can vary greatly from case to case. The most consistent features are (1) a smooth appearance of the surface of the brain due to lack of normal folding pattern (lissencephaly or agyria), often with malformations of other brain stru  Read More

  • Harrington syndrome

    A rare genetic disorder called Harrington syndrome causes the gradual death of brain nerve cells. Harrington syndrome, which often results in mobility, cognitive, and psychological disorders, has a substantial impact on a person's functional capacities. Huntington's disease symptoms can appear at any age, but most typically appear in adults in their 30s or 40s. When the disorder appears for the first time before the age of 20,  Read More

  • Hiccups, persistent

    A hiccup is an involuntary spasmodic contraction of the muscle at the base of the lungs (diaphragm) followed by the rapid closure of the vocal cords. Usually, hiccups last for a few hours or, occasionally, a day or two. However, chronic hiccups are ones that continue for an extended period of time. Episodes that last for more than two days and less than a month are sometimes called persistent hiccups. On rare occasions, hiccups persist even lo  Read More

  • Hie syndrome

    Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency disorder. Symptoms often become apparent at birth or early during infancy or childhood. The disorder is characterized by the triad of highly elevated levels of IgE in serum, recurring abscesses of the skin, and recurrent pneumonia AR-HIES is inherited as an autosomal recessive trait and the first symptoms include the development of a dry, red, flaky skin r  Read More

  • Hippel disease (hls)

    Hippel disease (HLS) is a hereditary disorder characterized by tumors developing in many organs. It results from a VHL gene mutation (change). Hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and retina, are tumors associated with HLS. Retinal tumors, also known as retinal angiomas, can cause blindness if they are not promptly treated. Additionally, clear cell renal cell carcinoma (ccRCC), a particul  Read More

  • Hirschsprung's disease

    Signs and symptoms of Hirschsprung's disease vary with the severity of the condition. Usually signs and symptoms appear shortly after birth, but sometimes they're not apparent until later in life. Typically, the most obvious sign is a newborn's failure to have a bowel movement within 48 hours after birth. Other signs and symptoms in newborns may include: Swollen belly Vomiting, including vomiting a gree  Read More

  • Holmes-adie syndrome

    Adie Syndrome is a rare neurological disorder affecting the pupil of the eye. In most patients the pupil is dilated (larger than normal) and slow to react to light on nearby objects. In some patients, however, the pupil may be constricted (smaller than normal) rather than dilated. Absent or poor reflexes are also associated with this disorder. Adie Syndrome is neither progressive nor life threatening, nor is it disabling.  Read More

  • Holocarboxylase synthetase deficiency

    Biotinidase deficiency (BTD) is a treatable, metabolic disorder that is the result of a low concentration, or complete lack, of the enzyme, biotinidase. Biotinidase deficiency is an inherited disorder in which the body is not able to properly process the vitamin, biotin, which is sometimes referred to as Vitamin H. Biotin is an essential vitamin to the metabolic process and biotinidase, among its other functions, allows biotin to become availa  Read More

  • Homogentisic acid oxidase deficiency

    Risk factors of Homogentisic acid oxidase deficiency: 1. Homogentisic acid oxidase deficiency is an autosomal recessive condition that is inherited. When a person receives the same defective gene for the same trait from both parents, recessive genetic diseases develop. A person will be a carrier for the disease if they have one normal gene and one sick gene, although they often won't exhibit any symptoms.  Read More

  • Horner's syndrome

    Horner syndrome is a relatively rare disorder characterized by a constricted pupil (miosis), drooping of the upper eyelid (ptosis), absence of sweating of the face (anhidrosis), and sinking of the eyeball into the bony cavity that protects the eye (enophthalmos). These are the four classic signs of the disorder. The congenital, and more rare, form of Horner syndrome is present at birth but the cause is not known. Most often, Horner  Read More

  • Hyaline membrane disease

    Infant respiratory distress syndrome is a lung disorder that tends to affect premature infants. Major symptoms include difficulty in breathing and collapsed lungs, potentially requiring mechanical ventilation or positive end-expiratory pressure (PEEP).  Read More

  • Hydroanencephaly

    Hydranencephaly is a central nervous system disorder characterized by an enlarged head and neurological deficits. The exact cause of Hydranencephaly is not known. This extremely rare form of Hydrocephalus involves the absence of portions of the brain. Results of neurologic examination in newborns may be normal or abnormal. The head usually appears enlarged at birth. Vision impairment, lack of growth and intellectual deficits are symptomatic of  Read More

  • Hydrocephalus

    The signs and symptoms of hydrocephalus vary somewhat by age of onset. Infants Common signs and symptoms of hydrocephalus in infants include: Changes in the head An unusually large head A rapid increase in the size of the head A bulging or tense soft spot (fontanel) on the top of the head Physical signs and symptoms Vomiting Sleepiness  Read More

  • Hyperammonemia due to carbamylphosphate

    Hyperammonemia due to carbamoyl phosphate is one of a set of conditions known as urea cycle disorders. A crucial liver enzyme is absent in people who lack hyperammonemia due to carbamoyl phosphate. Hyperammonemia, which results from this, raises the blood's ammonia levels and can be dangerous, particularly for the brain.The majority of affected people (those with the neonatal-onset form) will exhibit symptoms withi  Read More

  • Hyperammonemia due to ornithine transcarbamylase deficiency

    Hyperammonemia due to ornithine transcarbamylase deficiency, is when a newborn with an unexplained sickness that includes vomiting, progressive lethargy, and irritability should have an hyperammonemia due to ornithine transcarbamylase deficiency assessed. Blood tests may show abnormally high levels of ammonia, which is a sign of a problem with the urea cycle. However, other diseases such as organic acidemias, cong  Read More

  • Hyperekplexia

    Hyperekplexia is a rare hereditary, neurological disorder that may affect infants as newborns (neonatal) or prior to birth (in utero). It may also affect children and adults. Individuals with this disorder have an excessive startle reaction (eye blinking or body spasms) to sudden unexpected noise, movement, or touch. Symptoms include extreme muscle tension (stiffness or hypertonia) that prevent voluntary movement and can cause the affected per  Read More

  • Hyperexplexia

    Hyperekplexia is a rare hereditary, neurological disorder that may affect infants as newborns (neonatal) or prior to birth (in utero). It may also affect children and adults. Individuals with this disorder have an excessive startle reaction (eye blinking or body spasms) to sudden unexpected noise, movement, or touch. Symptoms include extreme muscle tension (stiffness or hypertonia) that prevent voluntary movement and can cause the affected per  Read More

  • Idiopathic basal ganglia calcification

    Familial idiopathic basal ganglia calcification (FIBGC) is a rare neurological disorder characterized by the presence of abnormal calcium deposits (calcifications) of unknown cause. Associated symptoms include progressive deterioration of cognitive abilities (dementia), loss of contact with reality (psychosis), mood swings and loss of acquired motor skills. As the condition progresses, paralysis may develop that is associated with increased mu  Read More

  • Idiopathic blepharospasm-oromandibular dystonia syndrome

    Meige syndrome is a rare neurological movement disorder characterized by involuntary and often forceful contractions of the muscles of the jaw and tongue (oromandibular dystonia) and involuntary muscle spasms and contractions of the muscles around the eyes (blepharospasm). The specific symptoms and their severity vary from case to case. Meige syndrome belongs to a group of disorders known as dystonia. Dystonia is a group of movemen  Read More

  • Idiopathic brachial plexus neuropathy

    Parsonage-Turner syndrome is a relatively common condition characterized by inflammation of the network of nerves that control and supply (innervate) the muscles of the chest, shoulders, and arms (brachial plexus). Individuals with the condition first experience a sudden onset of severe pain across the shoulder and upper arm. The muscles of the affected shoulder show weakness, wasting (atrophy), and paralysis (atrophic paralysis) within a few  Read More

  • Immunodeficiency with ataxia telangiectasia

    Ataxia telangiectasia (AT) is a complex genetic neurodegenerative disorder that may become apparent during infancy or early childhood. The disorder is characterized by progressively impaired coordination of voluntary movements (ataxia), the development of reddish lesions of the skin and mucous membranes due to permanent widening of groups of blood vessels (telangiectasia), and impaired functioning of the immune system (i.e., cellular and humor  Read More

  • Infantile epileptic encephalopathy

    West syndrome is a type of epilepsy characterized by spasms, abnormal brain wave patterns called hypsarrhythmia and sometimes mental retardation. The spasms that occur may range from violent jackknife or "salaam" movements where the whole body bends in half, or they may be no more than a mild twitching of the shoulder or eye changes. These spasms usually begin in the early months after birth and can sometimes be helped with medication. They ca  Read More

  • Infantile gaucher disease

    Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from case to case. Some individuals will develop few or no symp  Read More

  • Infectious chorea

    Sydenham chorea is a rare neurological disorder characterized by rapid, involuntary, purposeless movements, especially of the face, feet and hands. Additional symptoms may include muscle weakness and emotional or behavioral problems. Sydenham chorea most often affects children and adolescents. Sydenham chorea usually develops following Streptococcal infection and may occur as an isolated finding or as a major complication of acute rheumatic fe  Read More

  • Isaacs' syndrome

    Acquired neuromyotonia is an inflammatory disorder characterized by abnormal nerve impulses from the peripheral nerves that result in continuous muscle fiber activity. Affected individuals often experience progressive muscle stiffness and cramping especially in the hands and feet, increased sweating, and delayed muscle relaxation. Symptoms may persist even during sleep or under general anesthesia.  Read More

  • Isaacs-merten syndrome

    Acquired neuromyotonia is an inflammatory disorder characterized by abnormal nerve impulses from the peripheral nerves that result in continuous muscle fiber activity. Affected individuals often experience progressive muscle stiffness and cramping especially in the hands and feet, increased sweating, and delayed muscle relaxation. Symptoms may persist even during sleep or under general anesthesia.  Read More

  • Jackknife convulsion

    West syndrome is a type of epilepsy characterized by spasms, abnormal brain wave patterns called hypsarrhythmia and sometimes mental retardation. The spasms that occur may range from violent jackknife or "salaam" movements where the whole body bends in half, or they may be no more than a mild twitching of the shoulder or eye changes. These spasms usually begin in the early months after birth and can sometimes be helped with medication. They ca  Read More

  • Jakob's disease

    Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., spongiform encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. With symptom onset, affected individuals may develop confusion, depression, behavioral changes, impaired vision, and/or impaired coordination. As the disease progresses, there may be rapidly progressive deterioration of cognitive pr  Read More

  • Jakob-creutzfeldt disease

    Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., spongiform encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. With symptom onset, affected individuals may develop confusion, depression, behavioral changes, impaired vision, and/or impaired coordination. As the disease progresses, there may be rapidly progressive deterioration of cognitive pr  Read More

  • Kennedy-stefanis disease

    Kennedy disease is a rare, X-linked slowly progressive neuro-muscular disorder. Kennedy disease is typically an adult-onset disease, where symptoms occur mainly between the ages of 20 and 50. The disease is characterized by symptoms such as muscle weakness and cramps in the arms, legs, and facial area, enlarged breasts, and difficulty with speaking and swallowing (dysphagia). Kennedy disease affects fewer than 1 in 150,000 males and does not t  Read More

  • Ketotic glycinemia

    Propionic Acidemia is a rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical "building blocks" (amino acids) of certain proteins. Symptoms most commonly become apparent during the first weeks of life and may include abnormally diminished muscle tone (hypotonia), poor feeding, vomiting, listlessness (lethargy), excessive loss of fluids from bodily tiss  Read More

  • Kinsbourne syndrome

    Opsoclonus-myoclonus syndrome (OMS) is a paraneoplastic neurological disorder. It is characterized by associated ocular, motor, behavioral, sleep, and language disturbances. The onset is usually abrupt, often severe, and can become chronic.  Read More

  • Kluver bucy syndrome

    Kluver-Bucy syndrome is a very rare cerebral neurological disorder associated with damage to both temporal lobes resulting in abnormalities in memory, social and sexual functioning and idiosyncratic behaviors.  Read More

  • Kohlmeier-degos disease

    Small and medium-sized arteries in people with kohlmeier-degos disease develop blockages (occlusive arteriopathy), which reduces the amount of blood that can reach the affected areas. Typical skin lesions associated with Degos disease can develop and last anywhere from a few weeks to several years. Some people will only experience the skin-specific symptoms of Degos illness (benign cutaneous Degos disease), whereas other peopl  Read More

  • L-tryptophan disease

    Eosinophilia myalgia syndrome (EMS) is associated with the ingestion of contaminated L-tryptophan, a dietary supplement often sold in health food stores. The contaminant remains unknown. It is a disease of abrupt onset causing severe, disabling, chronic muscle pain, skin symptoms and other neurotoxic reactions . Diagnosis is not easy and depends on finding unusually high levels of eosinophils (circulating white blood cells) over a period of at  Read More

  • Landau kleffner syndrome

    Landau Kleffner syndrome (LKS) is a childhood disorder characterized by the loss of comprehension and expression of verbal language (aphasia) in association with severely abnormal electroencephalic (EEG) findings that often result in seizures.  Read More

  • Lipidosis sphingomyelin

    Niemann-Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of Niemann-Pick disease have been identified (NPD types A, B, C, D, and E). Symptoms of types A and B occur as a result of a deficiency of the enzyme acid sphingomyelinase (ASM), which is needed to break down sphingomyelin, a fatty substance found mostly in the brain and nervous system. This deficiency results in abnormal accumulation of ex  Read More

  • Lipoprotein lipase deficiency

    Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. The deficiency of this enzyme prevents affected individuals from properly digesting certain fats and results in a massive accumulation of fatty droplets called chylomicrons in the circulation (chylomicronemia) and consequently also an increase of the plasma concentration of fatty substances called tr  Read More

  • Livedo reticularis and cerebrovascular

    Sneddon syndrome is a rare progressive disorder affecting the blood vessels characterized by the association of a skin condition and neurological abnormalities. Characteristics include multiple episodes of reduced blood flow to the brain (cerebral ischemia) and bluish net-like patterns of discoloration on the skin surrounding normal- appearing skin (livedo reticularis). Major symptoms may include headache, dizziness, abnormally high blood pres  Read More

  • Louis-bar syndrome

    Ataxia telangiectasia (AT) is a complex genetic neurodegenerative disorder that may become apparent during infancy or early childhood. The disorder is characterized by progressively impaired coordination of voluntary movements (ataxia), the development of reddish lesions of the skin and mucous membranes due to permanent widening of groups of blood vessels (telangiectasia), and impaired functioning of the immune system (i.e., cellular and humor  Read More

  • Low potassium (hypokalemia)

    If your problem is temporary, or you’re only slightly hypokalemic, you might not feel any symptoms. Once your potassium levels fall below a certain level, you might experience: Weakness Fatigue Muscle cramps or twitching Constipation Arrhythmia (abnormal heart rhythms) Hypokalemia can affect your kidneys. You may have to go to the bathroom more often. You may also fee  Read More

  • Lowe's disease

    Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are associated with intellectual disabilities. Lowe syndrome is inherited as an X-linked genetic condition.  Read More

  • Lowe-bickel syndrome

    Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are associated with intellectual disabilities. Lowe syndrome is inherited as an X-linked genetic condition.  Read More

  • Lubs syndrome

    Androgen insensitivity refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy. This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells that receives the androgen hormone and instructs the cell in how to use it. Partial androgen insensitivity syndrome (pais) is part of a spectrum of syndromes that also includes androgen ins  Read More

  • Lupus

    No two cases of lupus are exactly alike. Signs and symptoms may come on suddenly or develop slowly, may be mild or severe, and may be temporary or permanent. Most people with lupus have mild disease characterized by episodes — called flares — when signs and symptoms get worse for a while, then improve or even disappear completely for a time. The signs and symptoms of lupus that you experience will depend on which body syste  Read More

  • Lymphedema hereditary

    Cure/medications for lymphedema hereditary: 1. Hereditary lymphedema treatment focuses on symptom management, especially lowering edema and avoiding infection. Referral to a lymphedema therapist is advised for lower leg edema. 2. Fitting compression hosiery, bandaging, massage, supportive footwear, and proper skin care are all possible treatment options. 3. Complete decongestive therapy (CDT) is a type of car  Read More

  • Mononeuritis multiplex

    Peripheral neuropathy is an umbrella term that denotes a disorder of, or damage to, the peripheral nervous system. The peripheral nervous system consists of all the motor and sensory nerves that connect the brain and spinal cord to the rest of the body (i.e., the nerves outside the central nervous system). The symptoms and physical findings associated with peripheral neuropathies vary greatly from case to case and may be extremely complex.  Read More

  • Mononeuritis peripheral

    Peripheral neuropathy is an umbrella term that denotes a disorder of, or damage to, the peripheral nervous system. The peripheral nervous system consists of all the motor and sensory nerves that connect the brain and spinal cord to the rest of the body (i.e., the nerves outside the central nervous system). The symptoms and physical findings associated with peripheral neuropathies vary greatly from case to case and may be extremely complex.  Read More

  • Mononeuropathym peripheral

    Peripheral neuropathy is an umbrella term that denotes a disorder of, or damage to, the peripheral nervous system. The peripheral nervous system consists of all the motor and sensory nerves that connect the brain and spinal cord to the rest of the body (i.e., the nerves outside the central nervous system). The symptoms and physical findings associated with peripheral neuropathies vary greatly from case to case and may be extremely complex.  Read More

  • Monosomy 3p2

    Monosomy is a rare condition occurring due to the deletion of chromosomal material present in the gene. A chromosome is made up of two arms: short arm “p” and longer arm “q”. This defect is observed on the p arm of chromosome 3, hence the name Monosomy 3p2. This genetic disorder affects physical features such as prenatal and postnatal development deficiency, extreme to profound cognitive retardation, skull and facial ma  Read More

  • Motoneuron disease

    Symptoms of Motor Neuron Disease are as follows:1. Amyotrophic Lateral Sclerosis: ALS influences your upper as well as your lower motor neurons. Gradually, your control over the muscles that aid you in walking, speaking, chewing, swallowing and breathing is lost. They grow weaker and waste away as time passes. You could experience stiffness and twitches in the muscles.2. Primary Lateral Sclerosis: PLS o  Read More

  • Motor neuron disease

    Motor neuron disease comprises a group of severe disorders of the nervous system characterized by progressive degeneration of motor neurons (neurons are the basic nerve cells that combine to form nerves). Motor neurons control the behavior of muscles. Motor neuron diseases may affect the upper motor neurons, nerves that lead from the brain to the medulla (a part of the brain stem) or to the spinal cord, or the lower motor neurons, nerves that  Read More

  • Moya-moya disease

    Moyamoya syndrome is a progressive disorder that affects the blood vessels in the brain (cerebrovascular). It is characterized by the narrowing (stenosis) and/or closing (occlusion) of the carotid artery inside the skull, the major artery that delivers blood to the brain. At the same time, tiny blood vessels at the base of the brain open up in an apparent attempt to supply blood to the brain distal to the blockage. These tiny vessels are the "  Read More

  • Moyamoya syndrome

    Moyamoya syndrome is defined as a progressive condition that disturbs the blood vessels in the brain. One of its earliest signs of evidence is stenosis or occlusion of the carotid artery present in the skull. Simultaneously, this blockage of blood impels the minute blood vessels at the base of the brain open up. It is said to be an attempt to improve the blood supply. The tiny blood vessels --named moyamoya-- give the disease  Read More

  • Mps disorder iii

    Mucopolysaccharidosis Disorders are a group of rare genetic conditions caused due to deficiency of one of the lysosomal enzymes. MPS Type-III is one of seven Mucopolysaccharidosis Disorders. It is a result of an inborn metabolism error transmitted as an autosomal recessive genetic condition. An abnormal quantity of a certain chemically complex molecule excreted in the urine is one of the most prevalent symptoms of MPS disorder III  Read More

  • Mucopolysaccharidosis iv

    Mucopolysaccharidosis IV (MPS IV) is a rare, progressive health condition caused by gene abnormalities. Although a metabolic disorder, it mainly affects the patient’s skeletal structure, resulting in stalled growth and bone malformations. The disease is also called Morquio Syndrome. Mucopolysaccharidosis IV manifests as two types- Type A and Type B, based on the type of gene mutation that underlies the condition. T  Read More

  • Mucopolysaccharidosis type iii

    Mucopolysaccharidosis type III, also known as Sanfilippo syndrome, is an inborn error in the metabolism of mucopolysaccharides. It reflects in deficiency or little activity of enzymes required for the catabolism of mucopolysaccharides leading to its accumulation. The disease presents with neurological manifestations such as autism, intellectual disability, behavioral problems, sleep disturbances, developmental regression, and  Read More

  • Mulibrey nanism syndrome (perheentupa sy...)

    Mulibrey nanism syndrome (perheentupa syndrome) is an extremely rare genetic disorder with 110 reported cases worldwide. A characteristic feature of the disease is nanism, which means short stature. MULIBREY stands for Muscle, Liver, brain, and eye. The disease course onset is prenatal. After birth, the baby has problems feeding, breathing, and cardiac problems. The children also experience muscle weakness, hepatomegaly, widel  Read More

  • Multiple peripheral neuritis

    Peripheral neuropathy is an umbrella term that denotes a disorder of, or damage to, the peripheral nervous system. The peripheral nervous system consists of all the motor and sensory nerves that connect the brain and spinal cord to the rest of the body (i.e., the nerves outside the central nervous system). The symptoms and physical findings associated with peripheral neuropathies vary greatly from case to case and may be extremely complex.  Read More

  • Multiple pterygium syndrome

    Multiple pterygium syndrome is a rare genetic disorder characterized by pterygium of multiple parts of the body, including the neck, fingers, elbow, armpits, thighs, and back of knees. Pterygium refers to the webbing of the skin. The condition is congenital, and progression is prenatal. There are two types of multiple pterygium diseases: Escobar and lethal. Escobar form, also known as Escobar syndrome, is a milder form and pre  Read More

  • Multiple sclerosis

    Multiple sclerosis signs and symptoms may differ greatly from person to person and over the course of the disease depending on the location of affected nerve fibers. They may include: Numbness or weakness in one or more limbs that typically occurs on one side of your body at a time, or the legs and trunk Partial or complete loss of vision, usually in one eye at a time, often with pain during eye movement Prol  Read More

  • Necrotizing encephalomyelopathy of leigh

    Leigh syndrome is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh syndrome usually begin between the ages of three months and two years. Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizur  Read More

  • Neill-dingwall syndrome

    Cockayne Syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three signs (1) growth retardation, i.e. short stature, (2) abnormal sensitivity to light (photosensitivity), and (3) prematurely aged appearance (progeria). In the classical form of Cockayne Syndrome (CS type I) the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenit  Read More

  • Nonketotic hyperglycinemia

    A high level of glycine in the body leads to a condition called nonketotic hyperglycinemia that primarily affects the nervous system. The disease onset occurs a few months after birth and has two forms: attenuated and severe. Early signs and symptoms are lethargy (which worsens over time and can lead to coma), life-threatening breathing difficulties, and weak muscle tone. The children who survive the early symptoms such as fee  Read More

  • Occlusive peripheral vascular disease

    Buerger's disease, also known as thromboangiitis obliterans, is a rare disorder that, in most cases, affects young or middle-aged male cigarette smokers. It is characterized by narrowing or blockage (occlusion) of the veins and arteries of the extremities, resulting in reduced blood flow to these areas (peripheral vascular disease). The legs are affected more often than the arms. In most cases, the first symptom is extreme pain of the lower ar  Read More

  • Oculosympathetic palsy

    Horner syndrome is a relatively rare disorder characterized by a constricted pupil (miosis), drooping of the upper eyelid (ptosis), absence of sweating of the face (anhidrosis), and sinking of the eyeball into the bony cavity that protects the eye (enophthalmos). These are the four classic signs of the disorder. The congenital, and more rare, form of Horner syndrome is present at birth but the cause is not known. Most often, Horner  Read More

  • Ophthalmoplegia, painful

    Tolosa-Hunt syndrome is a rare disorder characterized by severe periorbital headaches, along with decreased and painful eye movements (ophthalmoplegia). Symptoms usually affect only one eye (unilateral). In most cases, affected individuals experience intense sharp pain and decreased eye movements. Symptoms often will subside without intervention (spontaneous remission) and may recur without a distinct pattern (randomly). Affected individuals m  Read More

  • Ophthalmoplegia, recurrent

    Tolosa-Hunt syndrome is a rare disorder characterized by severe periorbital headaches, along with decreased and painful eye movements (ophthalmoplegia). Symptoms usually affect only one eye (unilateral). In most cases, affected individuals experience intense sharp pain and decreased eye movements. Symptoms often will subside without intervention (spontaneous remission) and may recur without a distinct pattern (randomly). Affected individuals m  Read More

  • Opthalmoneuromyelitis

    Opthalmoneuromyelitis, also known as Devic disease, is an acquired condition triggered by autoimmune reactions and certain microbial infections. However, some studies suspect the involvement of genetic factors. It is a rare chronic demyelinating disorder that affects the optic nerve and spinal cord. There are two forms: monophasic and relapsing. Monophasic occurs once that lasts for 30 to 60 days. Whereas it recurs in a relaps  Read More

  • Optic nerve papillitis

    Papillitis, also known as optic neuritis, is characterized by inflammation and deterioration of the portion of the optic nerve known as the optic disk. Also referred to as the "blind spot," the optic disk (optic papilla) is that portion of the optic nerve that enters the eye and joins with the nerve-rich membrane lining the eye (retina). The optic nerves are the pair of nerves (second cranial nerves) that transmit impulses from the retina to t  Read More

  • Optic neuromyelitis

    Optic neuromyelitis, also known as Devic's disorder or neuromyelitis optica, is a central nervous system disease that primarily affects the eye and spinal cord. Effects on the eyes are referred to as optic neuritis, whereas those on the spinal cord are called myelitis. The clinical manifestations are blindness in one or both eyes, weakness or paralysis in the legs or arms, painful spasms, loss of sensation, uncontrollable vomi  Read More

  • Oxalosis

    Often, the first sign of hyperoxaluria is a kidney stone. Symptoms of a kidney stone can include: Severe or sudden back pain Pain in the area below the ribs on the back (flank) that doesn't go away Blood in the urine Frequent urge to urinate Pain when urinating Chills or fever When to see a doctor Kidney stones in childhood are uncommon. Kidney stones th  Read More

  • Parkinson's disease and progressive supranuclear palsy

    Parkinson's disease is a progressive neurological disease that primarily affects the posture and movements of body parts. The signs and symptoms of the condition are tremors, bradykinesia, rigid muscles, impaired posture and balance, loss of automatic movements, and difficulty in writing and speaking.Progressive supranuclear palsy is a rare neurological condition that affects voluntary functions such as balance, gait, vision, speech, cog  Read More

  • Phlebitis and thrombophlebitis

    Phlebitis is an inflammation of veins, whereas thrombophlebitis is phlebitis with the clotting of blood in the affected vein. Treatment Supportive therapy includes elevation of the affected extremity, nonsteroidal anti-inflammatory drugs, warm or cold compress, compression stockings, and increased ambulation. 1. Superficial thrombophlebitis An intermediate subcutaneous dose of low-molecular-weigh  Read More

  • Pick's disease

    Pick's disease, also known as frontotemporal dementia, is the most common cause of dementia in patients under 60 and the third most common cause in patients over 65. It presents with neuropsychiatric symptoms that affect the patient's personality and those that cropped cognitive functions. It causes the degeneration of frontal and temporal cortices that reflects behavioral changes and language deficits. It is a spectrum of dem  Read More

  • Pierre robin malformation sequence

    Pierre-robin malformation sequence, also known as Pierre-Robin syndrome, is a congenital condition characterized by an underdeveloped jaw, backward displacement of the tongue, and upper airway obstruction. Another common feature is the U-shaped cleft palate. A child born with the disease has trouble breathing and feeding. Recurrent ear infections, hearing loss, natal teeth, and teeth crowding are also common. The condition is  Read More

  • Pineal cysts, symptomatic

    Pineal cysts, Symptomatic are commonly found in individuals in their 40s. Cysts refer to the closed structures formed by one or more layers of tissues filled with fluid. Pineal cysts are made of the inner layer of gliotic cells, a middle layer of pineal parenchyma, and an outer layer of connective tissue. The fluid is proteinaceous. Cysts are either typical (unilocular) or atypical (multilocular with septations). Usually, the  Read More

  • Prader-labhart-willi fancone syndrome

    Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), feeding difficulties, and poor weight gain. In childhood, features of this disorder include short stature, small genitals and an excessive appetite because affected individuals do not feel satisfied after completing a mean (satiety). Without intervention, this can lead to overeating and the gradual onset o  Read More

  • Pure red blood cell aplasia

    Acquired Pure Red Cell Aplasia is a rare bone marrow disorder characterized by an isolated decline of red blood cells (erythrocytes) produced by the bone marrow. Affected individuals may experience fatigue, lethargy, and/or abnormal paleness of the skin (pallor). Acquired Pure Red Cell Aplasia may occur for unknown reasons (idiopathic) or as a primary autoimmune disorder. It is also believed that Acquired Pure Red Cell Aplasia may occur second  Read More

  • Purpura, thrombotic thrombocytopenic

    Thrombotic thrombocytopenic purpura is a rare condition that leads to blood clots to build small blood vessels across the course of the body. Clots like these can result in severe medical issues if they end up blocking blood vessels and restrict the flow of blood to organs like the brain, kidneys and the heart. A protein of ADAMTS13 enzyme in the blood plays a role in blood clotting. An inadequacy in the ADAMTS13  Read More

  • Quantal squander

    Acquired neuromyotonia is an inflammatory disorder characterized by abnormal nerve impulses from the peripheral nerves that result in continuous muscle fiber activity. Affected individuals often experience progressive muscle stiffness and cramping especially in the hands and feet, increased sweating, and delayed muscle relaxation. Symptoms may persist even during sleep or under general anesthesia.  Read More

  • Ramsay-hunt syndrome

    Ramsay Hunt syndrome (RHS) is a rare neurological disorder characterized by paralysis of the facial nerve (facial palsy) and a rash affecting the ear or mouth. Ear abnormalities such as ringing in the ears (tinnitus) and hearing loss may also be present. Ramsay Hunt syndrome is caused by the varicella zoster virus (VZV), the same virus that causes chickenpox in children and shingles (herpes zoster) in adults. In cases of Ramsay Hunt syndrome,  Read More

  • Reflex neurovascular dystrophy

    Reflex sympathetic dystrophy syndrome (RSDS), also known as complex regional pain syndrome, is a rare disorder of the sympathetic nervous system that is characterized by chronic, severe pain. The sympathetic nervous system is that part of the autonomic nervous system that regulates involuntary functions of the body such as increasing heart rate, constricting blood vessels, and increasing blood pressure. Excessive or abnormal responses of porti  Read More

  • Retinitis pigmentosa

    Retinitis pigmentosa (RP), also called hereditary retinal dystrophy, is the most common form of retinopathy. 70 to 80 % of the cases are non-syndromic, in which the patient only loses vision. On the other hand, syndromic patients suffer from systemic involvement in addition to visual impairment. Generally, the initial symptom is loss of night vision. As the disease progresses, the visual field narrows gradually. Eventually, it  Read More

  • Reye's syndrome

    In Reye's syndrome, a child's blood sugar level typically drops while the levels of ammonia and acidity in his or her blood rise. At the same time, the liver may swell and develop fatty deposits. Swelling may also occur in the brain, which can cause seizures, convulsions or loss of consciousness. The signs and symptoms of Reye's syndrome typically appear about three to five days after the onset of a viral infection, such as the flu (in  Read More

  • Russian autumnal encephalitis

    Japanese Encephalitis is a severe inflammation of the brain caused by the Japanese B Encephalitis Virus that is transmitted by the bite of infected mosquitoes in certain areas of the world, particularly Asia. This disorder most commonly affects children and tends to be more actively spread during the summer. Symptoms include high fever, headaches, weakness, nausea, vomiting, paralysis, personality changes, and coma, possibly leading to neurolo  Read More

  • Salivosudoriparous syndrome

    According to the Medical Dictionary Database of 2010, salivosudoriparous syndrome is an autonomic disorder which occurs due to excessive sweating of the forehead, upper lip, perioral region or sternum that is successive to gustatory stimuli. It is also known as auriculotemporal syndrome or Frey’s syndrome. The most common symptoms of salivosudoriparous syndrome are as follows: 1. Spontaneous sweating in respo  Read More

  • Schilder disease

    Adrenoleukodystrophy is an X-linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome. This condition affects the white matter of the nervous system and the adrenal cortex. Some affected individuals have adrenal insufficiency, which means that reduced amounts of certain hormones such as adrenaline and cortisol are produced, leading to abnormalities in blood pressure, heart rate, sexual development and re  Read More

  • Spielmeyer-vogt disease

    Batten disease also known as spielmeyer-vogt disease, is a hereditary genetic illness that appears to disrupt the function of lysosomes, which are small structures within cells. Lysosomes are the cell's "recycle bin," regularly breaking down trash, proteins, and naturally occurring fatty molecules called lipids into smaller parts that can be discarded or recycled. Fatty acids, oils, waxes, and sterols are examples of lipids.  Read More

  • Spielmeyer-vogt-batten syndrome

    Batten disease also known as spielmeyer-vogt-batten syndrome, is a hereditary genetic illness that appears to disrupt the function of lysosomes, which are small structures within cells. Lysosomes are the cell's "recycle bin," regularly breaking down trash, proteins, and naturally occurring fatty molecules called lipids into smaller parts that can be discarded or recycled. Fatty acids, oils, waxes, and sterols are examples of l  Read More

  • Splenomegaly with rheumatoid arthritis

    Felty syndrome is usually described as associated with or a complication of rheumatoid arthritis. This disorder is generally defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (spenomelgaly) and a low white blood cell count (neutropenia). The presence of RA gives rise to painful, stiff and swollen joints. A low white blood cell count, especially when accompanied by an abnormally large spleen, leads to a  Read More

  • Subacute cerebellar degeneration

    Subacute cerebellar degeneration (SCD) is characterized by the degradation of the brain region responsible for muscular coordination and balance (the cerebellum). Less frequently, the region linking the spinal cord to the brain may be implicated (the medulla oblongata, the cerebral cortex, and the brain stem). SCD is classified into two types: 1) paraneoplastic cerebellar degeneration, which sometimes accompanies a cancer diag  Read More

  • Subacute necrotizing encephalopathy

    Leigh syndrome is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh syndrome usually begin between the ages of three months and two years. Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizur  Read More

  • Subacute spongiform encephalopathy

    Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., spongiform encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. With symptom onset, affected individuals may develop confusion, depression, behavioral changes, impaired vision, and/or impaired coordination. As the disease progresses, there may be rapidly progressive deterioration of cognitive pr  Read More

  • Succinic semialdehyde dehydrogenase defi...

    Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare inborn error of metabolism that is inherited as an autosomal recessive trait. In individuals with the disorder, deficient activity of the SSADH enzyme disrupts the metabolism of gamma-aminobutyric acid (GABA). GABA is a natural chemical known as a "neurotransmitter" that serves to inhibit the electrical activities of nerve cells (inhibitory neurotransmitter). SSADH deficiency lea  Read More

  • Sudeck's atrophy

    Reflex sympathetic dystrophy syndrome (RSDS), also known as complex regional pain syndrome, is a rare disorder of the sympathetic nervous system that is characterized by chronic, severe pain. The sympathetic nervous system is that part of the autonomic nervous system that regulates involuntary functions of the body such as increasing heart rate, constricting blood vessels, and increasing blood pressure. Excessive or abnormal responses of porti  Read More

  • Sulfatide lipidosis

    Metachromatic leukodystrophy, the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain (leukoencephalopathy). It is characterized by the accumulation of a fatty substance known as sulfatide (a sphingolipid) in the brain and other areas of the body (i.e., liver, gall bladder, kidneys, and/or spleen). The fatty protective covering on the nerve fibers (myelin) is lost from areas o  Read More

  • Susac syndrome

    Susac's syndrome is a rare disorder characterized by three main problems: impaired brain function (encephalopathy), partial or complete blockage (occlusion) of the arteries that supply blood to the retina (branch retinal artery occlusion, or BRAO), and inner ear disease (hearing loss, most notably). Three main forms of Susac's syndrome have become apparent. In one form, encephalopathy is the main problem. In the second form, BRAO a  Read More

  • Systemic mastocytosis

    Systemic mastocytosis (mas-to-sy-TOE-sis) is an uncommon condition in which too many mast cells accumulate in the body. Mast cells are a kind of white blood cell. Mast cells can be found in connective tissues all over your body. Mast cells aid in the efficient functioning of your immune system and, in most cases, help shield you from disease. Excess mast cells accumulate in your skin, bone marrow, digestive tract,  Read More

  • Takatsuki syndrome

    POEMS syndrome is an extremely rare multisystem disorder. POEMS is an acronym that stands for (P)olyneuropathy, disease affecting many nerves; (O)rganomegaly, abnormal enlargement of an organ; (E)ndocrinopathy, disease affecting certain hormone-producing glands that help to regulate sexual function, and certain metabolic functions; (M)onoclonal gammopathy or M proteins; and (S)kin abnormalities. Common symptoms include progressive weakness of  Read More

  • Tas midline defect

    Symptoms and Signs of tas midline defect The detailed clinical manifestations of Cantrell's pentalogy can vary greatly from person to person. Some newborns could have mild defects due to the disorder's incomplete expression. Other babies may face life-threatening complications. 1. The most severe form of Cantrell pentalogy manifests at birth with ectopia cordis and omphalocele. Ectopia Cordis is a serious co  Read More

  • Tay syndrome

    Trichothiodystrophy is a hereditary disorder characterized by brittle hair, which may be accompanied by a variety of other manifestations. It is sometimes called PIBIDS, a term that refers to the association of Photosensitivity Ichthyosis, Brittle hair, Intellectual impairment, Decreased fertility, and Short stature. Without photosensitivity the condition has been termed IBIDS, and without ichthyosis, BIDS. Many patients have recurrent infecti  Read More

  • Thalamic hyperesthetic anesthesia

    Central pain syndrome is a neurological disorder caused by damage to the central nervous system (CNS). Common symptoms include pain and loss of sensation, usually in the face, arms and/or legs. Pain is often constant and can be mild, moderate, or severe in intensity. Affected individuals may become hypersensitive to painful stimuli. The specific type of pain experience can vary from one individual to another based, in part, upon the underlying  Read More

  • Thoracic outlet syndrome (tos)

    Thoracic outlet syndrome is a condition whereby symptoms are produced from compression of nerves or blood vessels, or both, because of an inadequate passageway through an area (thoracic outlet) between the base of the neck and the armpit. Thoracic outlet syndrome symptoms include neck pain, shoulder pain, arm pain, numbness and tingling of the fingers, impaired circulation to th  Read More

  • Trapezoidocephaly-multiple synostosis syndrome

    Antley-Bixler Syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial (craniofacial) area and additional skeletal abnormalities. For example, the disorder is typically associated with premature closure of the fibrous joints (cranial sutures) between particular bones of the skull (craniosynostosis). Many affected infants and children also may have a prominent forehead, underdevelop  Read More

  • Trichorhinophalangeal syndrome type i

    Trichorhinophalangeal syndrome type I (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by thin, sparse scalp hair, unusual facial features, abnormalities of the fingers and/or toes, and multiple abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. Characteristic facial features may include a rounded (bulbous) "pear-shaped" nose, an abnormally sma  Read More

  • Trifacial neuralgia

    Trigeminal neuralgia, also known as tic douloureux, is a disorder of the fifth cranial nerve (trigeminal nerve) characterized by attacks of intense, stabbing pain affecting the mouth, cheek, nose, and/or other areas on one side of the face. The exact cause of trigeminal neuralgia is not fully understood.  Read More

  • Trigeminal neuralgia (tic douloureux)

    Trigeminal neuralgia (tic douloureux) is a disorder that causes one side of the face to experience pain that feels like an electric shock. The trigeminal nerve, which transmits feeling from your face to your brain, is impacted by this chronic pain syndrome. If you have trigeminal neuralgia, even slight facial stimulation, such as when you clean your teeth or put on cosmetics, can send a sharp, terrible pain through your face.  Read More

  • Trigonocephaly syndrome

    The complex condition known as trigonocephaly syndrome (OTCS) is associated with a wide variety of clinical characteristics and anomalies. This preliminary diagnosis may be given to children, who may later be found to have a particular genetic disorder. Affected children are born with trigonocephaly, a malformation characterized by a triangular-shaped head, a narrow pointed forehead, a flat, broad nasal bridge wit  Read More

  • Turcot syndrome

    Turcot syndrome is a rare inherited disorder characterized by the association of benign growths (adenomatous polyps) in the mucous lining of the gastrointestinal tract with tumors of the central nervous system. Symptoms associated with polyp formation may include diarrhea, bleeding from the end portion of the large intestine (rectum), fatigue, abdominal pain, and weight loss. Affected individuals may also experience neurological symptoms, depe  Read More

  • Upper brachial plexus palsy, erb-duchenn...

    Brachial plexus palsy, also known as Erb's palsy, is a paralysis or weakness of the arm caused by an injury to one or more nerves that control and supply the muscles of the shoulder and upper extremities (upper brachial plexus). It is more commonly seen in newborns (neonates) and is often the result of a difficult delivery. When it occurs in adults, the cause typically is an injury that has caused stretching, tearing or other trauma to the bra  Read More

  • Uroporphyrinogen decarboxylase deficienc...

    Porphyria cutanea tarda (PCT) is a type of porphyria in which affected individuals are sensitive to sunlight. Exposed skin shows abnormalities that range from slight fragility of the skin to persistent scarring and disfiguration. Due to fragility of the skin, minor trauma may induce blister formation. Areas of increased and decreased pigment content may be noted on the skin. Blistering of light exposed skin and increased hair growth are also c  Read More

  • Von hippel lindau disease

    The disorder known as von hippel-lindau (VHL) disease is hereditary (inherited). People with VHL have an increased risk of developing cancers in their eyes, kidneys, pancreas, adrenal glands, brain, spinal cord, and early adulthood. Most of the time, these tumors are benign (not cancer), but some of them can be malignant (cancerous). Is the von Hippel-Lindau (VHL) disease manageable? There is a 50% ri  Read More

  • Von recklinghausen's disease

    Tumors develop on nerve tissue as a result of a series of hereditary diseases called von recklinghausen's disease. Anywhere in the neurological system, including the brain, spinal cord, and nerves, these tumors can form. Von recklinghausen's disease comes in three different forms: schwannomatosis, neurofibromatosis 1 (NF1), and neurofibromatosis 2 (NF2). While NF2 and schwannomatosis are typically detected in early adulthood,  Read More

  • Von recklinghausen's neurofibromatosis

    Risk factors of von recklinghausen's neurofibromatosis These are the risk factors - 1. A family history of von recklinghausen's neurofibromatosis is the main risk factor for the condition. About half of those with NF1 and NF2 received the condition from a parent who had it. People with NF1 and NF2 who do not have affected relatives are more likely to have a novel gene mutation. 2. Both NF  Read More

  • Walker warburg syndrome

    Walker-Warburg syndrome (WWS) is a rare multisystem disorder characterized by muscle, brain and eye abnormalities, often leading to death in the first weeks of life. However, the specific symptoms and severity of WWS can vary greatly from case to case. The most consistent features are (1) a smooth appearance of the surface of the brain due to lack of normal folding pattern (lissencephaly or agyria), often with malformations of other brain stru  Read More

  • Warburg syndrome

    Walker-Warburg syndrome (WWS) is a rare multisystem disorder characterized by muscle, brain and eye abnormalities, often leading to death in the first weeks of life. However, the specific symptoms and severity of WWS can vary greatly from case to case. The most consistent features are (1) a smooth appearance of the surface of the brain due to lack of normal folding pattern (lissencephaly or agyria), often with malformations of other brain stru  Read More

  • Weaver-smith syndrome

    Weaver Syndrome is characterized by rapid growth. Usually starting before birth (prenatal onset), physical growth and bone development (maturation) can occur more quickly than average. Other symptoms can include increased muscle tone (hypertonia) with exaggerated reflexes (spasticity), slow development of voluntary movements (psychomotor retardation), specific physical characteristics, and/or foot deformities. Babies with this syndrome have a  Read More

  • Whiplash

    Signs and symptoms of whiplash usually — but not always — develop within 24 hours of the injury and may include: Neck pain and stiffness Worsening of pain with neck movement Loss of range of motion in the neck Headaches, most often starting at the base of the skull Tenderness or pain in the shoulder, upper back or arms Tingling or numbness in the arms Fatigu  Read More

  • Willi-prader syndrome

    Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), feeding difficulties, and poor weight gain. In childhood, features of this disorder include short stature, small genitals and an excessive appetite because affected individuals do not feel satisfied after completing a mean (satiety). Without intervention, this can lead to overeating and the gradual onset o  Read More

  • Wilson's disease

    Wilson's disease is present at birth, but signs and symptoms don't appear until the copper builds up in the brain, liver or other organ. Signs and symptoms vary depending on the parts of your body affected by the disease. They can include: Fatigue, lack of appetite or abdominal pain A yellowing of the skin and the whites of the eye (jaundice) Golden-brown eye discoloration (Kayser-Fleischer rings) F  Read More

  • Yunis varon syndrome

    Yunis-Varon syndrome is an extremely rare genetic multisystem disorder with defects affecting the skeletal system, ectodermal tissue (hair and teeth); and cardiorespiratory (i.e., heart and lungs) systems. It is characterized by large fontanelles, clavicular hypoplasia, characteristic facial features and/or abnormalities of fingers and toes. Characteristic features may include microcephaly, ear abnormalities, anteverted nares, midfacial hypopl  Read More