Endocrine Diseases

CHARGE Syndrome

CHARGE Syndrome

CHARGE syndrome is a complex genetic condition, which affects multiple systems in the body and sensory systems. It is the leading genetic cause of deafblindness worldwide, occurring in approximately 1 in 10,000 births.

Fragile X Syndrome

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.

Cushing’s Syndrome

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).

WAGR Syndrome

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.

22q11.2 Deletion Syndrome

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.

Sickle Cell Anemia

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 body,...

Beta-thalassemia

Beta-thalassemia

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 production of...

Cerebrotendinous Xanthomatosis

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 in various...

  • Sign up
Lost your password? Please enter your username or email address. You will receive a link to create a new password via email.
We do not share your personal details with anyone.