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Acromesomelic Dysplasia

Abstract

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NORD is very grateful to Robert C. Olney, MD, Director, Pediatric Endocrinology Training Program; Assistant Professor of Pediatrics, Mayo Medical School, for assistance in the preparation of this report.

Synonyms of Acromesomelic Dysplasia

  • acromesomelic dwarfism

Disorder Subdivisions

  • acromesomelic dysplasia, Maroteaux type
  • acromesomelic dysplasia, Osebold-Remondini type
  • acromesomelic dysplasia with genital anomalies
  • fibular hypoplasia and complex brachydactyly (Du Pan syndrome)
  • Grebe dysplasia (including Hunter-Thompson type)

General Discussion

Acromesomelic dysplasia is an extremely rare, inherited, progressive skeletal disorder that results in a particular form of short stature known as short-limb dwarfism. The disorder is characterized by acromelia and mesomelia. Mesomelia describes the shortening of the bones of the forearms and lower legs relative to the upper parts of those limbs. Acromelia is the shortening of the bones of the hands and feet. Thus, the short stature of affected individuals is the result of unusually short forearms and abnormal shortening of bones of the lower legs. The very short hands, fingers, feet, and toes are characteristic. These findings are apparent during the first years of life.

Organizations related to Acromesomelic Dysplasia

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

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