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Aarskog syndrome

Facial-digital-genital syndrome

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

Images

The face
Pectus excavatum

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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 facial features a person with Aarskog syndrome may have.

Support Groups

The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome: www.magicfoundation.org.

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.

Related Information

Short stature
Sex-linked recessive
Seizures

References

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.

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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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