Disease

Acrodysostosis

Definition

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

Alternative Names

Arkless-Graham; Acrodysplasia; Maroteaux-Malamut

Causes, incidence, and risk factors

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 infectionsGrowth problems, short arms and legsHearing problemsMental deficiencyUnusual looking face

Signs and tests

Your health care provider can usually diagnose this condition with a physical exam.This may show:Advanced bone ageBone deformities in hands and feetDelays in growthProblems with the skin, genitals, teeth, and skeletonShort arms and legs with small hands and feetShort head, measured front to back (brachycephaly)Short heightSmall, upturned broad nose with flat bridgeUnusual features of the face (short nose, open mouth, jaw that sticks out)Unusual headWide-spaced eyes (hypertelorism), sometimes with extra skin fold at corner of eyeIn 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 feetShort bonesShortening of the forearm bones near the wrist

Treatment

Treatment depends on the symptoms.Orthopedic care, early intervention, and special education are recommended.

Expectations (prognosis)

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

Complications

ArthritisCarpal tunnel syndromeWorsening range of movement in the spine, elbows, and hands

Calling your health care provider

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

Prevention

Genetic counseling may be helpful.

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. 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- 2011 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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