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Genetic and Rare Diseases Information Center (GARD)

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Cerebro-costo-mandibular syndrome


Other Names for this Disease

  • CCM syndrome
  • CCMS
  • Cerebrocostomandibular syndrome
  • Rib gap defects with micrognathia
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Overview

Cerebro-costo-mandibular syndrome (CCMS) is a very rare condition characterized by severe micrognathia (abnormally small jaw), abnormalities of the roof of the mouth (palate), and rib defects. Other signs and symptoms may include intellectual disability and microcephaly (small head size). In some cases, the features cause respiratory problems in early infancy and can be life-threatening.[1][2] Most cases appear to occur randomly (sporadically), but both autosomal dominant and autosomal recessive inheritance have been reported.[2] No specific gene known to cause the condition has been identified.[3] Treatment and prognosis depend on the features and severity in each affected person.[3]
Last updated: 5/19/2014

References

  1. Carol A. Bocchini. CEREBROCOSTOMANDIBULAR SYNDROME. OMIM. May 13, 2011; http://omim.org/entry/117650. Accessed 5/19/2014.
  2. CEREBROCOSTOMANDIBULAR SYNDROME. NORD. April 25, 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/508/viewAbstract. Accessed 5/19/2014.
  3. Hiroyuki Nagasawa. Cerebro-costo-mandibular syndrome. Orphanet. May, 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1393. Accessed 5/19/2014.
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Basic Information

  • 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 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.
Other Names for this Disease
  • CCM syndrome
  • CCMS
  • Cerebrocostomandibular syndrome
  • Rib gap defects with micrognathia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.