Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Craniometaphyseal dysplasia, autosomal recessive type


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.

Overview

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 condition is caused by mutations in the ANKH gene. Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal.[1]


 

Last updated: 8/24/2010

References

  1. Craniometaphyseal dysplasia. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia. Accessed 8/24/2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Craniometaphyseal dysplasia, autosomal recessive type. We will answer your question and update these pages with new resources and information.

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.