Cerebrocostomandibular Syndrome (CCMS)

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OMIM 57 117650 Orphanet 59 ORPHA1393 UMLS via Orphanet 74 C0265342 ICD10 via Orphanet 34 Q87.8 MedGen 42 C0265342

MeSH 44 D001848 D008607 D008844 KEGG 37 H01843 SNOMED-CT via HPO 69 204962002 82525005 263681008 258211005 41729002 16507009 3639002 422775003 63567004 87979003 253997002 27272007 271611007 32958008 253251006 95515009 44057004 11731003 228156007 247578003 91138005 48334007 52781008 199612005 22033007 86203003 229645001 289190003 253549006 30288003 253366007 405752007 70142008 83330001 16331000 235595009 698065002 250037002 69914001 30023002 203994003 414667000 17944005 111266001 64217002 95434006 414564002 202271004 237836003 78164000 249705009 422474003 more UMLS 73 C0265342

NIH Rare Diseases : ⁵³ 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. 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.

MalaCards based summary : Cerebrocostomandibular Syndrome, also known as cerebro-costo-mandibular syndrome, is related to cerebral cavernous malformations and cavernous malformation. An important gene associated with Cerebrocostomandibular Syndrome is SNRPB (Small Nuclear Ribonucleoprotein Polypeptides B And B1), and among its related pathways/superpathways is Spliceosome. Affiliated tissues include kidney, bone and skin, and related phenotypes are intellectual disability and cerebral calcification

OMIM : ⁵⁷ Cerebrocostomandibular syndrome (CCMS) is characterized mainly by severe micrognathia, rib defects, and mental retardation. A spectrum of rib gap defects have been reported ranging from a few dorsal rib segments to complete absence of ossification. In about half of the 65 reported cases to date, there is cerebral involvement including mental retardation, microcephaly, and histologic anomalies. Both autosomal dominant and autosomal recessive forms of the disorder have been described (Zeevaert et al., 2009). See CDG2G (611209) for a cerebrocostomandibular-like syndrome. (117650)

UniProtKB/Swiss-Prot : ⁷⁵ Cerebrocostomandibular syndrome: A syndrome characterized by severe micrognathia, rib defects ranging from a few dorsal rib segments to complete absence of ossification, and mental retardation.

Clinical features from OMIM:

117650

Search Clinical Trials , NIH Clinical Center for Cerebrocostomandibular Syndrome

Search GEO for disease gene expression data for Cerebrocostomandibular Syndrome.