Cerebrocostomandibular Syndrome (CCMS)

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OMIM 58 117650 KEGG 38 H01843 MeSH 45 D001848 D008607 D008844 ICD10 via Orphanet 35 Q87.8 UMLS via Orphanet 75 C0265342

Orphanet 60 ORPHA1393 MedGen 43 C0265342 SNOMED-CT via HPO 70 111266001 11731003 16331000 16507009 17944005 199612005 202271004 203994003 204962002 22033007 228156007 229645001 235595009 237836003 247578003 249705009 250037002 253251006 253366007 253549006 253997002 258211005 263681008 271611007 27272007 289190003 30023002 30288003 32958008 3639002 405752007 414564002 414667000 41729002 422775003 44057004 48334007 52781008 63567004 64217002 698065002 69914001 70142008 78164000 82525005 83330001 86203003 87979003 91138005 95434006 95515009 more UMLS 74 C0265342

NIH Rare Diseases : ⁵⁴ 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 cleft palate and micrognathia

OMIM : ⁵⁸ 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 : ⁷⁶ 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.