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Aarskog syndrome
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Aarskog syndrome

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Facial-digital-genital syndrome

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.

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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

    • Belly button that sticks out
    • Bulge in the groin or scrotum (inguinal hernia)
    • Delayed sexual maturity
    • 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 height (stature), which may not be obvious until the child is 1 - 3 years old
    • Poorly developed middle section of the face
    • Rounded face
    • "Shawl" scrotum, testicles that have not come down (undescended)
    • Short fingers and toes with mild webbing
    • Single crease in the palm of the hand
    • Small, broad hands and feet with short fingers and curved-in fifth 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
  • Exams and Tests

    • Genetic testing for changes (mutations) in the FGD1 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.

  • Outlook (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.

  • Possible Complications

    • Changes in the brain
    • Difficulty growing in the first year of life
    • Poorly aligned teeth
    • Seizures
    • Undescended testicle
  • 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 doctor thinks you or your child may have Aarskog syndrome.

  • Prevention

    Genetic testing may be available for persons with a family history of the condition or a known mutation of the gene.

Related Information

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Review Date: 10/29/2013  

Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.

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