Ataxia describes lack of muscle coordination while performing voluntary movements. A sign of an underlying condition, ataxia can affect any part of your body.
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.
Klinefelter syndrome is a genetic disorder that affects hormone levels in males. Discover what causes it — and what treatments are available.
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.
In myelofibrosis, healthy bone marrow is replaced with scar tissue, leading to severe anemia and fatigue.
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 is a rare blood disorder in which a person's bone marrow makes too many blood cells.
Prader-Willi syndrome, a genetic disorder characterized by decreased muscle tone and a constant desire to eat, often leads to morbid obesity.
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.
July 19, 2013
- Handbook — Help me understand genetics. Genetics Home Reference. http://ghr.nlm.nih.gov/handbook/. Accessed May 7, 2013.
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- Raby BA, et al. Genetic counseling and testing. http://www.uptodate.com/home. Accessed May 8, 2013.
- Grody WW, et al. ACMG position statement on prenatal/preconception expanded carrier screening. American College of Medical Genetics and Genomics. Genetics in Medicine. In press. Accessed May 8, 2013.
- Harms RW (expert opinion). Mayo Clinic, Rochester, Minn. May 10, 2013.