Select a specific condition below to view its details.
- 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
- Branched chain ketonuria i
Branched-chain ketonuria, also known as maple syrup urine disorder, is a metabolic disorder caused by the abnormal activity of the Branched-Chain alpha-Keto Acid Dehydrogenase (BCKAD) complex. The enzyme is responsible for the metabolism of branched-chain amino acids. The deficiency of the enzymes leads to the accumulation of the substrate in plasma and urine. The high levels of keto acids lead to serious neurological manifest 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
- Endocrine tumors, carcinoid type
Carcinoid syndrome is a disease consisting of a combination of symptoms, physical manifestations, and abnormal laboratory findings. Carcinoid syndrome is seen in individuals who have an underlying carcinoid tumour with spread to the liver. Carcinoid tumors are well-differentiated neuroendocrine tumours with secretory properties, releasing serotonin, along with a number of other active peptides. These tumors can arise anywhere along the primiti 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:
Vomiting, including vomiting a gree 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
- Lowe-bickel syndrome
A multisystem condition called Lowe Bickel syndrome, also known as the oculocerebrorenal syndrome of Lowe (OCRL) is characterized by irregularities affecting the kidney, neurological system, and eye. It is a rare, pan-ethnic, X-linked disease with an estimated prevalence of 1 in 500,000 in the general population. At birth, babies have a severe hypotonia condition and a bilateral cataract. A proximal renal tubulopathy (Fanconi- 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
- 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