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    Acrodysostosis

    Arkless-Graham; Acrodysplasia; Maroteaux-Malamut

    Acrodysostosis is an extremely rare disorder that is present at birth (congenital). It leads to problemswith the bones of the hands, feet, and nose, and intellectual disability.

    Causes

    Most patients with acrodysostosis have no family history of the disease. However, sometimes the condition is passed down from parent to child. Parents with the condition have a 1 in 2 chance of passing the disorder to their children.

    There is a slightly greater risk with fathers who are older.

    Symptoms

    • Frequent middle ear infections
    • Growth problems, short arms and legs
    • Hearing problems
    • Mental deficiency
    • Unusual looking face

    Exams and Tests

    Your health care provider can usually diagnose this condition with a physical exam.

    This may show:

    • Advanced bone age
    • Bone deformities in hands and feet
    • Delays in growth
    • Problems with the skin, genitals, teeth, and skeleton
    • Short arms and legs with small hands and feet
    • Short head, measured front to back (brachycephaly)
    • Short height
    • Small, upturned broad nose with flat bridge
    • Unusual features of the face (short nose, open mouth, jaw that sticks out)
    • Unusual head
    • Wide-spaced eyes (hypertelorism), sometimes with extra skin fold at corner of eye

    In the first months of life, x-rays may show spotty calcium deposits, called stippling, in bones (especially the nose). Infants may also have:

    • Abnormally short fingers and toes (brachydactyly)
    • Early growth of bones in the hands and feet
    • Short bones
    • Shortening of the forearm bones near the wrist

    Treatment

    Treatment depends on the symptoms.

    Orthopedic care, early intervention, and special education are recommended.

    Outlook (Prognosis)

    Problems depend on the degree of skeletal involvement and intellectual disability. In general, patients do relatively well.

    Possible Complications

    • Arthritis
    • Carpal tunnel syndrome
    • Worsening range of movement in the spine, elbows, and hands

    When to Contact a Medical Professional

    Call your health care provider if your infant orchild does not seem to be growing or developing properly.

    Prevention

    Genetic counseling may be helpful.

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      Review Date: 11/2/2012

      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 A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, David R. Eltz, and Stephanie Slon.

      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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