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Diseases

Genetic and Rare Diseases Information Center (GARD)

Craniometaphyseal dysplasia, autosomal recessive type


Other Names for this Disease
  • CMDR
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Overview

Autosomal recessive craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bone in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves.[1] The condition is caused by mutations in the GJA1 gene. As the name suggests, it is inherited in an autosomal recessive manner.[2] Treatment is symptomatic and supportive, and may include surgery to relieve cranial pressure and correct facial deformities.[3] 
Last updated: 4/11/2016

References

  1. Craniometaphyseal dysplasia. Genetics Home Reference (GHR). February 2009; https://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia.
  2. CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE. Online Mendelian Inheritance in Man (OMIM). September 6, 2013; http://www.omim.org/entry/218400.
  3. Craniometaphyseal Dysplasia. National Organization for Rare Disorders (NORD). 2005; http://rarediseases.org/rare-diseases/craniometaphyseal-dysplasia/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Craniometaphyseal dysplasia, autosomal recessive type. 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

  • 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 Craniometaphyseal dysplasia, autosomal recessive type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CMDR
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.