Kyphomelic dysplasia

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Disease Overview

Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized by the following: a disproportionately short stature with a short narrow chest, shortening and bending (bowing) of the limbs, flared irregular metaphyses of the bones, and characteristic facial features.  Bone changes are said to improve with age. Kyphomelic dysplasia is inherited in an autosomal recessive pattern. [3015]  

Recent studies indicate that Kyphomelic dysplasia is no longer considered it’s own entity and that individual cases should be further evaluated and re-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome. [3054][3055]


Synonyms

  • Bowing, congenital, with short bones
  • Congenital bowing with short bones

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National Organization for Rare Disorders