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Diseases

Genetic and Rare Diseases Information Center (GARD)

Craniometaphyseal dysplasia, autosomal dominant


Other Names for this Disease
  • CMDD
  • CMD
  • CMDJ
  • Craniometaphyseal dysplasia Jackson 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.

Overview

Autosomal dominant 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).[1][2] The overgrowth of bones in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves.[1] If untreated, compression of the cranial nerves can be disabling.[2] The condition is caused by mutations in the ANKH gene. As the name suggests, it is inherited in an autosomal dominant manner.[1][2] Treatment may include surgery to reduce compression of cranial nerves and recontouring of the facial bones.[2]

 

Last updated: 4/11/2016

References

  1. Craniometaphyseal dysplasia. Genetics Home Reference (GHR). February 2009; https://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia.
  2. Reichenberger E, Chen IP. Craniometaphyseal Dysplasia, Autosomal Dominant. GeneReviews. January 15, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1461/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Craniometaphyseal dysplasia, autosomal dominant. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 dominant. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CMDD
  • CMD
  • CMDJ
  • Craniometaphyseal dysplasia Jackson 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.