Spinal curvature associated with a condition called neurofibromatosis. Roughly a quarter of patients with neurofibromatosis will develop scoliosis. Neurofibromatosis is a rare genetic disorder characterized by areas of increased and decreased skin pigmentation and the development of many benign nerve and skin tumors. The scoliosis may become severe enough to affect heart and lung function or may be relatively mild.
Abnormal spinal development where two or more vertebrae fail to separate on one side of the spine which causes the spine to curve. Thus several vertebrae are fused on one side of the spine. As the individual grows, the spine becomes increasingly curved to the point where lung and heart function may be affected.
Scott Bryant Graham syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Scott Bryant Graham syndrome, or a subtype of Scott Bryant Graham syndrome, affects less than 200,000 people in the US population.
A very rare inherited syndrome characterized by head and digital abnormalities as well as mental retardation.
A rare condition involving the presence of too many histiocytes in the spleen and bone marrow. These histiocytes stain a sea-blue color during testing. These abnormal staining histiocytes have been noted in several diseases such as Niemann-Pick disease, lipid metabolism disorders and Norum disease.
A very rare syndrome characterized mainly by loose joints, facial anomalies and a shawl scrotum.
Sebastian syndrome is an extremely rare genetic disease that results in impaired blood clotting function and abnormal platelet formation. Another name for Sebastian syndrome is autosomal dominant macrothrombocytopenia with leukocyte inclusions.
A rare inherited disorder characterized by the presence of teeth at birth and the development of numerous skin cysts that may contain a thick substance called sebum. The cysts occur mainly on the chest, abdomen and front of neck.
Infection with a type of parasitic nematode (worm). The symptoms are highly variable depending on where the worm migrates to through out the body and which particular species is involved. Some examples of nematodes are Wuchereria, Spirurina, Mansonella, Drucunculus, Loa and Ascaris.
A very rare syndrome characterized by numerous abnormalities including poor fetal growth, reduced amniotic fluid and heart, brain spleen and kidney anomalies.
A rare syndrome characterized by dwarfism and other abnormalities characteristic of Seckel syndrome as well as hand and foot anomalies.
Seckel syndrome is a rare inherited disorder mainly involving retarded growth, mental retardation, small head and a facial appearance resembling a bird. It is often referred to as bird-headed dwarfism. There are three subtypes of the disorder. Additional variable symptoms may also occur.
Seckel syndrome is a rare inherited disorder mainly involving retarded growth, mental retardation, small head and a facial appearance resembling a bird. It is often referred to as bird-headed dwarfism. There are three subtypes of the disorder. Type 2 tends to have less severe motor and mental retardation and the head is not small. Type 2 also involves at least one café au lait spot. Additional variable symptoms may also occur.
Secondary Hemophagocytic Lymphohistiocytosis (sHLH) is a severe, life-threatening syndrome of hyperinflammation triggered by an underlying medical condition, such as a severe infection, malignancy, or autoimmune disease. It occurs when the immune system is overactivated, leading to a “cytokine storm” and excessive activation of macrophages and lymphocytes that damage tissues and organs. Treatment involves controlling the immune response with immunosuppressants, corticosteroids, or chemotherapy, while also treating the underlying trigger.
Increased blood pressure in blood vessels that carry deoxygenated blood from the heart to the lungs (pulmonary artery). The increased blood pressure is due to any of a number of diseases that restricts blood flow through the lung and hence builds pressure in the pulmonary artery leading to it.
A slow-growing type of breast cancer that can occur in males and females as well as children.
A rare disorder characterized by spasticity, seizures, absent abdominal reflexes, small head and mental retardation.
A very rare birth disorder characterized mainly by involuntary jerky movements that start during infancy. The disorder is caused by a genetic defect resulting in a deficiency of an enzyme called tyrosine hydroxylase. The disorder is usually treatable by administering low doses of L-DOPA medication.
A very rare syndrome characterized mainly by spinal abnormalities and abnormal throat development where the throat opening at the back of the mouth is absent.
A rare syndrome characterized mainly by seizures, mental retardation and hair abnormalities.
Excessive exposure to selenium. Selenium is essential to the diet in small amounts but is toxic in large amounts. Poisoning can occur through inhalation or ingestion.
A very rare disorder characterized mainly by kidney abnormalities, enlarged bladder due to an obstruction in the urethra and fused legs.
Seminoma is one type of testicular cancer[1] that is believed to originate from the germinal epithelium of the seminiferous tubules.
A very rare syndrome characterized mainly by anemia, missing thumb, an immune disorder and an excessive buildup of fluid in the fetus or newborn (hydrops fetalis).
A very rare syndrome characterized mainly by an unusual facial appearance and an unusual condition where there a cystic spaces around blood vessels as they enter the brain.