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Genetic and Rare Diseases Information Center (GARD)

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Pseudoachondroplasia


Other Names for this Disease

  • PSACH
  • Pseudoachondroplastic dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
  • Spondyloepiphyseal dysplasia, pseudoachondroplastic
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Overview

Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. Pseudoachondroplasia is caused by mutations in the COMP gene. This condition is inherited in an autosomal dominant pattern.[1]
Last updated: 1/19/2011

References

  1. Pseudoachondroplasia. Genetics Home Reference (GHR). February 2008; http://ghr.nlm.nih.gov/condition=pseudoachondroplasia. Accessed 10/30/2012.
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2 question(s) from the public on Pseudoachondroplasia have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Pseudoachondroplasia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

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 Pseudoachondroplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • PSACH
  • Pseudoachondroplastic dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
  • Spondyloepiphyseal dysplasia, pseudoachondroplastic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.