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Acrodysostosis

Abstract

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Synonyms of Acrodysostosis

  • Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation
  • PNM

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Acrodysostosis is an extremely rare skeletal disorder characterized by abnormally short and malformed bones of the hands and feet (peripheral dysostosis) and underdevelopment of the nose (nasal hypoplasia). Other findings may include progressive growth delays, short stature, and/or unusual head and facial (craniofacial) features. Affected infants may exhibit premature maturation of bones of the hands and feet, malformation and shortening of the forearm bones (radius and ulna) near the wrist, and/or abnormally short fingers and toes (brachydactyly). Characteristic facial features may include a flattened, underdeveloped (hypoplastic) "pug" nose, an underdeveloped upper jaw bone (maxilliary hypoplasia), widely spaced eyes (ocular hypertelorism), and/or an extra fold of skin on either side of the nose that may cover the eyes' inner corners (epicanthal folds).

Acrodysostosis is usually accompanied by moderate mental retardation and learning difficulties. It may be inherited as an autosomal dominant trait in some cases, although no gene has yet been identified with this disorder. Acrodysostosis seems to be associated in some cases with advanced parental age.

Organizations related to Acrodysostosis

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., short stature, craniofacial abnormalities, etc.].)

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