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Genetic and Rare Diseases Information Center (GARD)

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Axial spondylometaphyseal dysplasia


Other Names for this Disease

  • Axial SMD
  • SMD Axial
  • Spondylometaphyseal dysplasia axial type
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Overview

Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term “axial” means towards the center of the body. “Sphondylos” is a Greek term meaning vertebra. “Metaphyseal dysplasia” refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine, upper arms and upper legs, and results in shortened stature. For reasons not well understood, this rare skeletal dysplasia is also associated with early and progressive vision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown. It is thought to be inherited in an autosomal recessive fashion.[1]
Last updated: 9/14/2012

References

  1. Suzuki S, Kim OH, Makita Y, Saito T, Lim GY, Cho TJ, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G. Axial spondylometaphyseal dysplasia: additional reports. Am J Med Genet A. 2011 Oct;155A(10):2521-8. Epub 2011 Sep 9; http://www.ncbi.nlm.nih.gov/pubmed/21910225. Accessed 9/14/2012.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a 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 Axial spondylometaphyseal dysplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Axial SMD
  • SMD Axial
  • Spondylometaphyseal dysplasia axial type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.