Aarskog syndrome

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Pectus excavatum

Simian crease

The face

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

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 dysplasia" ( FGDY1) found on the X chromosome.

Review Date: 03/13/2006
Reviewed By: Lamya Alarif, Ph.D., H.C.L.D., Immunology and Genetics Associates, McLean, VA. Review provided by VeriMed Healthcare Network.