In-depth

Ambiguous genitalia

Angelman syndrome

Ataxia

Ataxia describes lack of muscle coordination while performing voluntary movements. A sign of an underlying condition, ataxia can affect any part of your body.

Brugada syndrome

Colon polyps

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia is a genetic condition affecting the adrenal glands and interfering with normal growth and development in boys and girls.

Craniosynostosis

Craniosynostosis is a birth defect in which one or more of the bony plates of a baby's skull fuse prematurely, misshaping the head.

Cystic fibrosis

DiGeorge syndrome

Dilated cardiomyopathy

Down syndrome

Dwarfism

Ehlers-Danlos syndrome

Epidermolysis bullosa

Essential thrombocythemia

Factor V Leiden

Gaucher's disease

Huntington's disease

Klinefelter syndrome

Klinefelter syndrome is a genetic disorder that affects hormone levels in males. Discover what causes it — and what treatments are available.

Krabbe disease

Krabbe disease is a rare, inherited disorder — most often affecting infants — that impairs functioning of the central nervous system and usually leads to early death.

Long QT syndrome

Low sperm count

Lynch syndrome

Male infertility

Muscular dystrophy

Myelofibrosis

In myelofibrosis, healthy bone marrow is replaced with scar tissue, leading to severe anemia and fatigue.

Noonan syndrome

Noonan syndrome is caused by a mutation in one of the genes responsible for normal development in many parts of the body, including the heart.

Phenylketonuria

Pheochromocytoma

Polycythemia vera

Polycythemia vera is a rare blood disorder in which a person's bone marrow makes too many blood cells.

Prader-Willi syndrome

Prader-Willi syndrome, a genetic disorder characterized by decreased muscle tone and a constant desire to eat, often leads to morbid obesity.

Pregnancy after miscarriage

Progeria

Rett syndrome

Stickler syndrome

Stickler syndrome can affect multiple parts of your body, including your eyes, face, ears, bones and joints.

Thalassemia

Thalassemia is an inherited blood disorder, characterized by less hemoglobin and fewer red blood cells than normal. When necessary, treatment includes blood transfusions.

Turner syndrome

Wilson's disease

July 19, 2013