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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Acromicric dysplasia


Other Names for this Disease
  • Acromicric skeletal dysplasia
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Symptoms


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What are the signs and symptoms of acromicric dysplasia?

Acromicric dysplasia usually first becomes apparent during late infancy. It is mainly characterized by abnormally short hands and feet, short stature, and mild facial abnormalities. Certain bones in the hands, fingers, feet and toes are abnormally short and stubby (brachydactyly). The long bones of the arms and legs may also be abnormally short. In some cases, individuals may have a malformation of the thigh bone (femur). Most affected individuals described in the medical literature have reached an average adult height of about four feet.[1] Characteristic facial features that have been reported include a round face; narrow palpebral fissures; well-defined eyebrows; long eyelashes; a bulbous nose with anteverted nostrils; a long and prominent philtrum; and thick lips with a small mouth.[2] As affected individuals age, the distinctive facial characteristics typically become less obvious.[1] Other features that occasionally occur in affected individuals include well-developed muscles; a hoarse voice; frequent ear, tracheal, and respiratory infections; and spine abnormalities.[2] Life expectancy is normal.[2]
Last updated: 1/30/2012

References
  1. Acromicric Dysplasia. NORD. August 8, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1078/viewAbstract. Accessed 1/30/2012.
  2. L. Faivre-Olivier. Acromicric dysplasia. Orphanet. May 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=969. Accessed 1/25/2012.