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

Cerebral palsy

Charcot-Marie-Tooth disease

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

Cystic fibrosis

Diabetes insipidus

DiGeorge syndrome

Dilated cardiomyopathy

Down syndrome

Dwarfism

Ehlers-Danlos syndrome

Epidermolysis bullosa

Essential thrombocythemia

Factor V Leiden

Gaucher's disease

Hemochromatosis

Huntington's disease

Hypertrophic cardiomyopathy

Infertility

Klinefelter syndrome

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 hypogonadism

Male infertility

Marfan syndrome

Muscular dystrophy

Myelofibrosis

Neurofibromatosis

Noonan syndrome

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

Primary progressive aphasia

Progeria

Pulmonary hypertension

Rett syndrome

Stickler syndrome

Thalassemia

Thoracic aortic aneurysm

Triple X syndrome

Turner syndrome

Wilson's disease

July 19, 2013