Aarskog syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

The face

Aarskog syndrome

Definition:

Aarskog syndrome is an inherited disease characterized by short stature, facial abnormalities, musculoskeletal, and genital anomalies.

Causes, incidence, and risk factors:

Aarskog syndrome is an X-linked recessive genetic disorder (although some studies show it could possibly be an X-linked dominant disorder), therefore, mainly males are affected, although females may have a milder manifestation of some of the features. It is caused by mutations in a gene called "faciogenital displasia" ( FGDY1) found on the X chromosome.

Review Date: 3/13/2006
Reviewed By: Lamya Alarif, Ph.D., H.C.L.D., Immunology and Genetics Associates, McLean, VA. Review provided by VeriMed Healthcare Network.

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