Aarskog syndrome

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Pectus excavatum

Simian crease

The face

Orthodontic treatment may be attempted for some of the facial abnormalities. Trials of growth hormone have not been effective to treat short stature in this disorder.

The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at www.magicfoundation.org.

Mild degrees of mental slowness may be present, but affected children usually have good social skills. Some males may exhibit reduced fertility.

Some recent findings have included cystic changes in the brain and generalized seizures. There may be difficulty growing in the first year of life in up to one-third of cases. Misaligned teeth may require orthodontic correction. An undescended testicle will require surgery.

Call your health care provider if your child exhibits delays in growth or if you notice any of the irregularities described here. Seek genetic counseling if there is Aarskog syndrome in your family. Seek evaluation by a geneticist if your doctor thinks you or your child may have Aarskog syndrome.

Review Date: 03/13/2006
Reviewed By: Lamya Alarif, Ph.D., H.C.L.D., Immunology and Genetics Associates, McLean, VA. Review provided by VeriMed Healthcare Network.