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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

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;
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Kyphomelic dysplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Bowing, congenital, with short bones
  • Congenital bowing with short bones
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.