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.
Causes, incidence, and risk factors:
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).
- Belly button that sticks out
- Bulge in the groin or scrotum (inguinal hernia )
- Delayed sexual maturation
- Delayed teeth
- Downward palpebral slant to eyes
- Hairline with a "widow's peak"
- Mildly sunken chest (pectus excavatum )
- Mild to moderate mental problems
- Mild to moderate short stature which may not be obvious until the child is 1 - 3 years old
- Poorly developed midportion of the face
- Rounded face
- "Shawl" scrotum , testicles that have not come down (undescended)
- Short fingers and toes with mild webbing
- Single crease in palm of hand
- Small, broad hands and feet with short fingers and curved-in 5th finger
- Small nose with nostrils tipped forward
- Top portion of the ear folded over slightly
- Wide groove above the upper lip, crease below the lower lip
- Wide-set eyes with droopy eyelids
Signs and tests:
- Genetic testing for mutations in the FGDY1 gene
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.
- Cystic changes in the brain
- Difficulty growing in the first year of life
- Poorly aligned teeth
- Undescended testicle
Calling your health care provider:
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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