Other Names for this Disease
- Cerebrocostomandibular syndrome
- CCM syndrome
- Rib gap defects with micrognathia
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 Most cases appear to occur randomly (sporadically), but both autosomal dominant and autosomal recessive inheritance have been reported. No specific gene known to cause the condition has been identified. Treatment and prognosis depend on the features and severity in each affected person.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.
Last updated: 5/19/2014
- Carol A. Bocchini. CEREBROCOSTOMANDIBULAR SYNDROME. OMIM. May 13, 2011; http://omim.org/entry/117650. Accessed 5/19/2014.
- CEREBROCOSTOMANDIBULAR SYNDROME. NORD. April 25, 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/508/viewAbstract. Accessed 5/19/2014.
- 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.
- 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.
- 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.