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 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

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

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

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-mayou syndrome is an inherited metabolic disorder. It is passed down through families, thereby triggering a genetic mutation in an individual. The batten-mayou syndrome is evident to affect the cell’s competency to break down cellular waste, thereby, eliminating it from the body. When the body is unable to get rid of the sugars, lipids and proteins, they start accumulating, in turn, affecting the nervous system an  Read More

Beckwith-Wiedemann syndrome (BWS) is a rare genetic overgrowth disorder. It is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from case to case. However, in many individuals, associated features include above-average birth and weight and increased growth after birth (postnatally), an usually large tongue (macroglossia), enlargement of certain internal organs (visceromegaly), and protrusion of  Read More

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

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

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

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

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

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 is a neuronal migration condition caused by the development of several small convolutions/microgyria. This leads to intellectual disability and other neurological anomalies.It is important to note that Micropolygyria is not a disease, to begin with; it is just descriptive while the primary cause of brain malformation is unknown.1. Symptoms (as per affected areas of the brain) of Bra  Read More

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

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

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

Cleidocranial dysplasia is a rare skeletal dysplasia characterized by short stature, distinctive facial features and narrow, sloping shoulders caused by defective or absent collarbones (clavicles). Major symptoms may include premature closing of the soft spot on the head (coronal), delayed closure of the space between the bones of the skull (fontanels), narrow and abnormally shaped pelvic and pubic bones and deformations in the chest (thoracic  Read More

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

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

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 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 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, 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

Cyclic neutropenia is a rare blood disorder characterized by recurrent episodes of abnormally low levels of certain white blood cells (neutrophils) in the body. Neutrophils are instrumental in fighting off infection by surrounding and destroying bacteria that enter the body. Symptoms associated with cyclic neutropenia may include fever, a general feeling of ill health (malaise), and/or sores (ulcers) of the mucous membranes of the mouth. In mo  Read More

Best vitelliform macular dystrophy is an autosomal dominant genetic form of macular degeneration that usually begins in childhood or adolescence and slowly progresses to affect central vision. The age of onset and severity of vision loss are highly variable. Best vitelliform macular dystrophy is associated with an abnormality in the VMD2 gene.  Read More

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

Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to the measles virus. SSPE usually develops 2 to 10 years after the original viral attack. Initial symptoms may include memory loss, irritability, seizures, involuntary muscle movements, and/or behavioral  Read More

Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to the measles virus. SSPE usually develops 2 to 10 years after the original viral attack. Initial symptoms may include memory loss, irritability, seizures, involuntary muscle movements, and/or behavioral  Read More

De-efferented state is also named locked-in syndrome. It is a very rare neurological disorder. In this disorder, there occurs full paralysis of all the voluntary muscles, but only the muscle that controls the movements of the eyes is not affected. The person who is suffering from this disease is alert and conscious, and awake, but they are unable to produce any type of movement, or they are unable to speak. They can only commu  Read More

Huntington's disease is a genetic, progressive, neurodegenerative disorder characterized by the gradual development of involuntary muscle movements affecting the hands, feet, face, and trunk and progressive deterioration of cognitive processes and memory (dementia). Neurologic movement abnormalities may include uncontrolled, irregular, rapid, jerky movements (chorea) and athetosis, a condition characterized by relatively slow, writhing involun  Read More

Degos kohlmeier disease is a very rare type of disorder in which small and medium-sized arteries become blocked and restrict the flow of blood to affected areas. This disease generally causes skin lesions that may last for a period of time, ranging from weeks to years. In this disease, there are limited symptoms of skin that are benign cutaneous Degos disease, and in some individuals, they develop symptoms affecting other orga  Read More

The diencephalic syndrome is a very rare neurological disorder characterized by failure to thrive, abnormal thinness (emaciation), amnesia, intense sleepiness, unusual eye position and sometimes blindness. It is normally seen in infancy or early childhood but some cases have been reported in older children and even adults. Diencephalic syndrome is usually caused by a brain tumor such as a low-grade glioma or astrocytoma.  Read More

The diencephalic syndrome is a very rare neurological disorder characterized by failure to thrive, abnormal thinness (emaciation), amnesia, intense sleepiness, unusual eye position and sometimes blindness. It is normally seen in infancy or early childhood but some cases have been reported in older children and even adults. Diencephalic syndrome is usually caused by a brain tumor such as a low-grade glioma or astrocytoma.  Read More

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

Duchenne's paralysis is also known as Brachial plexus palsy and Erb's palsy. This disease is one type of paralysis in the arm, which is caused by an injury to nerves that control and supply the muscles of the shoulder and upper extremities. 1. This disease is commonly seen in newborns and may cause difficult deliveries. 2. In adults, the cause of this disease is typically an injury that has caused stretching  Read More

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

Encephalitis is an inflammation of the brain. Meningitis is an inflammation of the membranes (called meninges) that surround the brain and spinal cord. Both infections can be caused by bacteria or viruses and rarely a fungus. Headache and fever are the most common symptoms of encephalitis and meningitis. Stiff neck, confusion, or lethargy can also be present. The diagnosis is usually made by performing a lumb  Read More

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

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

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

Because epilepsy is caused by abnormal activity in the brain, seizures can affect any process your brain coordinates. Seizure signs and symptoms may include: Temporary confusion A staring spell Uncontrollable jerking movements of the arms and legs Loss of consciousness or awareness Psychic symptoms such as fear, anxiety or deja vu Symptoms vary depending on the type of seiz  Read More

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 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

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

The term "facio-auriculo-vertebral spectrum" describes a group of three uncommon conditions that many medical professionals think are closely related to one another and which range in severity within the same disorder. These conditions are present at birth (congenital). They involve deformities of the eyes, ears, and spine, as the name would imply. The least severe type of the disorder is represented by the facio-  Read More

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

Fothergill disease is a condition that makes one side of the face seem as though it has received an electric shock in terms of pain. The trigeminal nerve, which transmits feeling from your face to your brain, is impacted by this chronic pain syndrome. Fothergill disease patients may experience agonizing pain when even minor facial stimulation, such as tooth brushing or applying makeup, occurs. At first, you can en  Read More

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

A rare and frequently fatal lysosomal storage disorder called galactosylceramide lipidosis causes progressive harm to the nerve system. Galactosylceramide Lipidosis is an autosomal recessive condition marked by abnormal sphingolipid metabolism. The protective covering (myelin sheath) of neurons in the brain and throughout the nervous system is destroyed by this hereditary illness. It typically appears before the age of six mon  Read More

A rare autosomal recessive lysosomal storage condition called galactosylceramidase deficiency is brought on by a lack of galactocerebrosidase. Galactocerebrosidase deficiency is a rare autosomal recessive condition brought on by a lack of the enzyme (GALC, also known as galactosylceramidase). The liposomal hydrolysis of galactolipids produced during white matter myelination is carried out by the enzyme galactocere  Read More

A rare and frequently fatal lysosomal storage disorder called galactosylceramide lipidosis causes progressive harm to the nerve system. Galactosylceramide Lipidosis is an autosomal recessive condition marked by abnormal sphingolipid metabolism. The protective covering (myelin sheath) of neurons in the brain and throughout the nervous system is destroyed by this hereditary illness. It typically appears before the age of six mon  Read More

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

An uncommon genetic degenerative illness of the central and peripheral nervous systems is known as globoid cell leukoencephalopathy. It is distinguished by the presence of globoid cells (cells with many nuclei), the breakdown of the myelin sheath that protects nerves, and the death of brain cells. These illnesses result in a severe decline in mental and motor abilities and affect the formation or development of th  Read More

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

Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a rare, inherited neurological movement disorder characterized by the progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is the most common type of neurodegeneration with brain iron accumulation (NBIA), a group of clinical disorders marked by progressive abnormal involuntary movements, alterations in muscle to  Read More

Congenital muscular dystrophy in its most severe form, hard +/-e syndrome, is accompanied by abnormalities of the brain and eyes. Typical signs and symptoms include hypotonia, muscle weakness, developmental delay, intellectual dysfunction, and sporadically occurring seizures. Lissencephaly, hydrocephalus, cerebellar deformities, eye abnormalities, and other abnormalities are also linked to it. Although the genetic etiology is  Read More

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

When the brain experiences a reduction in oxygen or blood flow, hypoxic-ischemic encephalopathy (HIE), a type of brain dysfunction (brain injury), takes place. HIE can happen prior to birth, during labor and delivery, or the following delivery. How much brain damage occurs depends on how long the brain is deprived of oxygen and blood flow. HIE syndrome in children could not have any lasting effects. HIE may have a  Read More

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

Mowat-Wilson syndrome (MWS) is a rare genetic disorder that may be apparent at birth or later in childhood. MWS is characterized by intellectual disability, distinctive facial features and seizures. Other congenital anomalies occur in some individuals and can include a gastrointestinal disease known as Hirschsprung disease (40-50% of individuals) in which a narrowing of a portion of the colon is present, heart (cardiac) defects, kidney (renal)  Read More

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

Adie syndrome, also known as Holmes-Adie syndrome, is a rare genetic condition that affects the eye's pupil. Most patients have dilated pupils, which are bigger than normal and slow to respond to bright light. Tendon reflexes can be absent or weak, which is another symptom of this condition. The origin of Adie syndrome is typically unclear (idiopathic), however, it can also be brought on by other disorders such trauma, surgery  Read More

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

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

Cause of horner's syndrome Carotid artery dissection, the emergence of tumors in the neck or chest cavity, particularly neuroblastomas and tumors of the upper part of the lung (Pancoast tumor), the emergence of lesions in the midbrain, brain stem, upper spinal cord, neck, or eye orbit, inflammation or growths affecting the lymph nodes of the neck, and/or surgery or other types of trauma to the neck or upper spinal  Read More

Huntington's disease is a genetic, progressive, neurodegenerative disorder characterized by the gradual development of involuntary muscle movements affecting the hands, feet, face, and trunk and progressive deterioration of cognitive processes and memory (dementia). Neurologic movement abnormalities may include uncontrolled, irregular, rapid, jerky movements (chorea) and athetosis, a condition characterized by relatively slow, writhing involun  Read More

Bowen Hutterite syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) during infancy; malformations of the head and facial (craniofacial) area, resulting in a distinctive appearance; and other physical abnormalities. These may include restricted joint movem  Read More

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

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

Carbamoyl phosphate synthetase I deficiency (CPSID) is a rare inherited disorder characterized by complete or partial lack of the carbamoyl phosphate synthetase (CPS) enzyme. This is one of five enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of the CPSI enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Affect  Read More

Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of nitrogen the body, a process known as the urea cycle. The lack of the OTC enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Excess ammonia, wh  Read More

Idiopathic basal ganglia calcification is a hereditary, genetic condition marked by abnormal calcium deposits in parts of the brain that regulate movement. Basal ganglia, cerebral, and cortical regions (parts of the brain) have calcium deposits that cause atrophy. Motor and mental problems result from the considerable neuron (brain cell) loss caused by this mineral deposit. There is a paucity of molecular and gene  Read More

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

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

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

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

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

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 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

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

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

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

Pick disease is a form of dementia characterized by behavioral changes such as deterioration of social skills and changes in personality. Intellectual impairment, memory loss and language deterioration may also occur. Most cases of Pick disease are sporadic in nature, but a genetic form of the disease is recognized. Although a progressive form of communication impairment (aphasia) may occur as part of Pick disease, people with Pick disease hav  Read More

Ataxia telangiectasia (A-T), sometimes referred to as Louis-Bar syndrome, is a rare autosomal recessive ataxia with an early start. The ataxia telangiectasia mutated (ATM) gene mutation results in a clinical picture that combines neurological and systemic symptoms. Cerebellar atrophy with progressive ataxia, cutaneous telangiectasias, a higher incidence of malignancy (especially lymphoid malignancy), radiosensitivity, immune d  Read More

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 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

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

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

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

Early meningitis symptoms may mimic the flu (influenza). Symptoms may develop over several hours or over a few days. Possible signs and symptoms in anyone older than the age of 2 include: Sudden high fever Stiff neck Severe headache that seems different than normal Headache with nausea or vomiting Confusion or difficulty concentrating Seizures Sleepiness or diff  Read More

While mono-neuritis multiplex can affect anyone, those with particular disorders are more likely to get it. While these illnesses can lead to mono-neuritis multiplex, they can also be minor and not always recognized. Around half of all instances of mono-neuritis multiplex were formerly undiagnosed, although recent decades have seen improvements in this area. 1. Diabetes mellitus, illnesses of the connective tissue  Read More

Chromosome 3, Monosomy 3p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 3 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable. However, associated features often include growth delays before and after birth (prenatal and postnatal growth deficiency); severe to profound mental retardation; distinctive malformations of the skull and facial (crani  Read More

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

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 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

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

Sialidosis, also known as mucolipidosis type I, is a rare inherited metabolic disorder characterized by a deficiency of the enzyme neuraminidase (sometimes referred to as sialidase). Deficiency of neuraminidase results in the abnormal accumulation of toxic materials in the body. Sialidosis is divided into two types (i.e., type I and type II). Sialidosis type I usually becomes apparent during the second decade of life with the development of su  Read More

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, 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 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 pterygium syndrome is a very rare genetic disorder characterized by minor facial anomalies, short stature, vertebral defects, multiple joints in a fixed position (contractures) and webbing (pterygia) of the neck, inside bend of the elbows, back of the knees, armpits and fingers. Multiple pterygium syndrome usually follows autosomal recessive inheritance but can also follow autosomal dominant inheritance.  Read More

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

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

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

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

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

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, 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

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, 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

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 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 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, 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, 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 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

Pseudotumor cerebri literally means "false brain tumor." It is likely due to high pressure within the skull caused by the buildup or poor absorption of cerebrospinal fluid (CSF). The disorder is most common in women between the ages of 20 and 50.  Read More

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

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

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

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

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

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

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

Curing spinal muscular atrophy I (SMA) is not currently achievable; however, research to identify novel treatments is ongoing.Treatment and assistance are available to help persons with the disorder manage their symptoms and live their lives to the fullest.Child care will be provided by a group of different healthcare specialists. They will assist in developing a care plan outlining the assistance and therapi  Read More

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 (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

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 sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to the measles virus. SSPE usually develops 2 to 10 years after the original viral attack. Initial symptoms may include memory loss, irritability, seizures, involuntary muscle movements, and/or behavioral  Read More

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

Most management of succinic semialdehyde dehydrogenase deficiency is symptomatic, with the goal of treating seizures and neurobehavioral abnormalities. This illness has been treated with a wide range of antiepileptic medications. 1. While vigabatrin is a permanent inhibitor of GABA-transaminase and hence suppresses the synthesis of succinic semialdehyde, its efficacy in treating seizures linked with SSADH deficien  Read More

Sudeck's atrophy is also called Complex regional pain syndrome (CRPS) which is a type of persistent pain that typically affects one's arm or leg. CRPS usually arises as a result of an injury, surgery, stroke, or heart attack. The pain is excessive in comparison to the intensity of the initial damage. The specific causes of CRPS are unknown. It is assumed to be caused by a difference or injury to the peripheral and central nerv  Read More

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

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

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

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

The genetic multisystem disorder trichorhinophalangeal syndrome type 1 (TRPS1) is incredibly rare. Thin, sparse hair on the scalp, peculiar facial characteristics, malformed fingers and/or toes, and numerous abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia), particularly in the hands and feet, are all traits of TRPS1.A rounded (bulbous) "pear-shaped" nose, an excessively small jaw (m  Read More

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

A rare condition known as uroporphyrinogen decarboxylase deficiency is characterized by painful, blistering skin lesions that appear on skin exposed to the sun (photosensitivity). After minimal trauma, the fragile skin of the affected area may peel or blister. The liver may also exhibit abnormalities. Low levels of the enzyme uroporphyrinogen decarboxylase are the cause of PCT (UROD). Signs and Symptoms of uroporp  Read More

Vogt-Koyanagi-Harada disease is a rare disorder of unknown origin that affects many body systems, including as the eyes, ears, skin, and the covering of the brain and spinal cord (the meninges). The most noticeable symptom is a rapid loss of vision. There may also be neurological signs such as severe headache, vertigo, nausea, and drowsiness. Loss of hearing, and loss of hair (alopecia) and skin color may occur along, with whitening (loss of p  Read More

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

Usually, faulty modifications (mutations) in the EZH2 gene result in Wallenberg syndrome. The EZH2 gene functions wrongly as a result of these detrimental alterations. The EZH2 gene has the ability to methylate, or switch on and off, other genes. The fact that Wallenberg syndrome affects numerous body systems is due to the influence of the EZH2 gene on the operation of numerous other genes. However, it is unkn  Read More