Aarskog syndrome

Alternative Names

Facial-digital-genital syndrome

Definition of Aarskog syndrome

Aarskog syndrome is an inherited disease that affects a person’s height, muscles, skeleton, genitals, and appearance of the face. Inherited means that it is passed down through families.

Causes, incidence, and risk factors

Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called “faciogenital dysplasia” ().

Treatment

Moving the teeth (orthodontic treatment) may be done for some of the abnormal facial features.

Expectations (prognosis)

Some people may have mild degrees of mental slowness, but affected children usually have good social skills. Some males may have problems with fertility.

Review

A.D.A.M. Editorial Team: David Zieve, MD, MHA, David R. Eltz. Previously reviewed by Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network (10/14/2009). – 5/17/2010

The face
Simian crease
Pectus excavatum

ADAM Medical Encyclopedia

Article written by

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability.