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

Cerebral palsy — Comprehensive overview covers symptoms, causes and treatment of this movement disorder.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease includes a group of disorders that affect the peripheral nerves, causing muscle weakness and loss of muscle bulk. Treatment focuses on managing symptoms.

Childhood disintegrative disorder

Childhood disintegrative disorder is a developmental disorder characterized by normal development of at least two years, followed by loss of language, social and motor skills.

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 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

Diabetes insipidus

Diabetes insipidus is a rare condition characterized by intense thirst and the excretion of large amounts of urine.

DiGeorge syndrome

Dilated cardiomyopathy

Down syndrome


Ehlers-Danlos syndrome

Epidermolysis bullosa

Essential thrombocythemia

Factor V Leiden

Gaucher's disease


Hemochromatosis causes your body to store large amounts of iron, which can cause life-threatening complications. The simple treatment is to regularly remove blood.

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 hypogonadism

Male infertility

Marfan syndrome

Marfan syndrome, a connective tissue disorder, can affect almost any part of your body, including your heart, eyes and ligaments.

Muscular dystrophy


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


Neurofibromatosis — Comprehensive overview covers symptoms, diagnosis and treatment of this genetic disorder.

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

If you've had a miscarriage and want to get pregnant again, you might have questions. Find out more about pregnancy after miscarriage.

Primary progressive aphasia

Primary progressive aphasia is a rare neurological syndrome that slowly and progressively impairs language capabilities.


Pulmonary hypertension

High blood pressure affecting only the arteries in your lungs is known as pulmonary hypertension. Discover the symptoms, risk factors and treatment for this condition.

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.

Triple X syndrome

How to identify and treat triple X syndrome.

Turner syndrome

Wilson's disease

July 19, 2013