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Genetic and Rare Diseases Information Center (GARD)

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Hypochondroplasia


Other Names for this Disease

  • HCH
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Hypochondroplasia is a form dwarfism that affects the conversion of cartilage into bone, particularly in the long bones of the arms and legs. Hypochondroplasia is similar to achondroplasia, but the features tend to be milder. People with this condtion usually have short arms and legs and broad, short hands and feet. Other features include a large head, limited range of motion in the elbows, lordosis, and bowed legs. Hypochondroplasia is caused by mutations in the FGFR3 gene and is inherited in an autosomal dominant fashion.[1]
Last updated: 4/29/2011

References

  1. Hypochondroplasia. Genetics Home Reference. June 2006; http://ghr.nlm.nih.gov/condition/hypochondroplasia. Accessed 4/29/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Hypochondroplasia. 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

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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 Hypochondroplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • HCH
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.