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The face
The face


Simian crease
Simian crease


Pectus excavatum
Pectus excavatum


Definition:

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).



Symptoms:
  • 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
  • X-rays


Treatment:

Moving the teeth (orthodontic treatment) may be done for some of the abnormal facial features.



Support Groups:

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



Expectations (prognosis):

Some people may have mild degrees of mental slowness, but affected children usually have good social skills. Some males may have problems with fertility.



Complications:
  • Cystic changes in the brain
  • Difficulty growing in the first year of life
  • Poorly aligned teeth
  • Seizures
  • 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.



Prevention:

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.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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