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. 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).
Moving the teeth (orthodontic treatment) may be done for some of the abnormal facial features.
The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at www.magicfoundation.org.
Some people may have mild degrees of mental slowness, but affected children usually have good social skills. Some males may have problems with fertility.
Call your health care provider if your child has delayed growth or if you notice any of the symptoms described here. Seek genetic counseling if there is a history of Aarskog syndrome in your family. Contact a genetic specialist if your doctor thinks you or your child may have Aarskog syndrome.
Prenatal testing may be available for those with a family history of the condition or known mutation of the gene.
Review Date:
2/5/2008
Reviewed By:
Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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