Ambiguous genitalia

Angelman syndrome


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.


Cystic fibrosis

Diabetes insipidus

DiGeorge syndrome

Dilated cardiomyopathy

Down syndrome


Ehlers-Danlos syndrome

Epidermolysis bullosa

Essential thrombocythemia

Factor V Leiden

Gaucher's disease


Huntington's disease

Hypertrophic cardiomyopathy


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


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.



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


Pulmonary hypertension

Rett syndrome

Stickler syndrome

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


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

Thoracic aortic aneurysm

Triple X syndrome

Turner syndrome

Wilson's disease

July 19, 2013