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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Kyphomelic dysplasia


Other Names for this Disease
  • Bowing, congenital, with short bones
  • Congenital bowing with short bones
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Overview



What is Kyphomelic dysplasia?


What is Kyphomelic dysplasia?

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. [1]  

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. [2][3]
Last updated: 2/22/2011

References
  1. Pallotta R, et al. Radiology. September 1999; http://radiology.rsna.org/content/212/3/847.long. Accessed 2/10/2011.
  2. Martine M, et al. Re-Evaluation of Kyphomelic dysplasia. America Journal of Medical Genetics. 2003;
  3. Spranger J, et al. Spectrum of Schwartz-Jampel Syndrome Includes Micromelic Chondrodysplasia, Kyphomelic Dysplasia, and Burton Disease. American Journal of Medical Genetics. 2000;