Aarskog syndrome - Symptoms,Causes

by Adam 2010-12-31 15:35:53

Aarskog syndrome - Symptoms,Causes

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.


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" (FGDY1).


Belly button that sticks out
Bulge in the groin or scrotum (inguinal hernia)
Delayed sexual maturationsexual maturation

Delayed teeth
Downward palpebral slant to eyes
Hairline with a "widow's peak"
Mildly sunken chest (pectus excavatum)
Mild to moderate mental problems
Mild to moderate short stature (which may not be obvious until the child is 1 - 3 years old)
Poorly developed midportion of the face
Rounded face
"Shawl" scrotum, testicles that have not come down (undescended)
Short fingers and toes with mild webbing
Single crease in palm of hand
Small, broad hands and feet with short fingers and curved-in fifth finger
Small nose with nostrils tipped forward
Top portion of the ear folded over slightly
Wide groove above the upper lip, crease below the lower lip
Wide-set eyes with droopy eyelids

Exams and Tests

Genetic testing for mutations in the FGDY1 gene


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

Update Date: Updated by: 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).

Aarskog syndrome - Symptoms,Causes

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