- 22q11.2 Deletion Syndrome
22q11.2 deletion syndrome is a disorder that involves many different areas of the body and can vary greatly in severity among people with the condition.
Other Names: Beta thalassemia major; Cooley’s anemia; Beta thalassemia intermedia; Beta thalassemia minor; Erythroblastic anemia; Mediterranean anemia; Thalassemia, Hispanic gamma-delta-beta. Beta-thalassemia is a blood disorder that reduces the body’s …
- Cerebrotendinous Xanthomatosis
Overview Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate …
- Cushing’s Syndrome
Cushing’s syndrome is a rare endocrine disorder caused by prolonged exposure of the body’s tissues to high levels of cortisol (a hormone produced by the adrenal gland).
- Fragile X Syndrome
Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.
- Sickle Cell Anemia
Other Names: HbS disease; Hemoglobin S Disease; Sickling disorder due to hemoglobin S. Sickle cell anemia is is an inherited form of anemia — a condition in which there aren’t enough healthy red blood cells to carry adequate oxygen throughout your bod …
- WAGR Syndrome
WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability.