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    Aarskog syndrome

    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.

    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.

    • Changes in the brain
    • Difficulty growing in the first year of life
    • Poorly aligned teeth
    • Seizures
    • Undescended testicle

    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.

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    • The face

      illustration

    • Simian crease

      illustration

    • Pectus excavatum

      illustration

      • The face

        illustration

      • Simian crease

        illustration

      • Pectus excavatum

        illustration

      A Closer Look

        Self Care

          Tests for Aarskog syndrome

            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.

            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. 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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