DefinitionAcrodysostosis 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 NamesArkless-Graham; Acrodysplasia; Maroteaux-Malamut
Causes, incidence, and risk factorsMost 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.
SymptomsFrequent middle ear infectionsGrowth problems, short arms and legsHearing problemsMental deficiencyUnusual looking face
Signs and testsYour 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
TreatmentTreatment 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.
ComplicationsArthritisCarpal tunnel syndromeWorsening range of movement in the spine, elbows, and hands
Calling your health care providerCall your health care provider if your infant or child does not seem to be growing or developing properly.
PreventionGenetic counseling may be helpful.