Aarskog syndrome

Definition

Aarskog syndrome is a very rare disease that affects a person's height, muscles, skeleton, genitals, and appearance. It can be passed down through families (inherited).

Alternative Names

Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia

Causes

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

Symptoms of this condition include:

Exams and Tests

These tests may be done:

Treatment

Moving the teeth may be done to treat some of the abnormal dental features a person with Aarskog syndrome may have.

Support Groups

More information and support for people with Aarskog syndrome and their families can be found at:

Outlook (Prognosis)

Some people may have some mental slowness, but children with this condition often have good social skills. Some males may have problems with fertility.

Possible Complications

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.

Prevention

Genetic testing may be available for people with a family history of the condition or a known mutation of the gene that causes it.

References

D'Cunha Burkardt D, Graham JM. Abnormal body size and proportion. In: Pyeritz RE, Korf BR, Grody WW, eds. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications. 7th ed. Philadelphia, PA: Elsevier; 2019:chap 4.

Jones KL, Jones MC, Del Campo M. Moderate short stature, facial ± genital. In: Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2022:chap D.


Review Date: 11/1/2021
Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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