Aarskog syndrome is a disease that affects a person's height, muscles, skeleton, genitals, and appearance. It is passed down through families (inherited).
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" (FGD1).
Symptoms of this condition include:
Exams and Tests
These tests may be done:
Moving the teeth may be done to treat some of the abnormal facial features a person with Aarskog syndrome may have.
The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome: www.magicfoundation.org.
Some people may have some mental slowness, but children with this condition often have good social skills. Some males may have problems with fertility.
These complications can occur:
When to Contact a Medical Professional
Call your health care provider if your child has delayed growth or if you notice any symptoms of Aarskog syndrome. Seek genetic counseling if you have a family history of Aarskog syndrome. Contact a genetic specialist if your provider thinks you or your child may have Aarskog syndrome.
Genetic testing may be available for people with a family history of the condition or a known mutation of the gene that causes it.
Jones KL, Jones MC, Del Campo M. Moderate short stature, facial and genital. In: Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation. 7th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap D.
Review Date: 10/27/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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