Cerebrocostomandibular syndrome

Preferred Label : Cerebrocostomandibular syndrome;

Symbol : CCMS;

CISMeF acronym : CCMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Rib gap defects with micrognathia;

Description : 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 recessive inheritance has been described (Zeevaert et al., 2009). See CDG2G (611209) for a cerebrocostomandibular-like syndrome.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the small nuclear ribonucleoprotein polypeptides B and B1 gene (SNRPB, 182282.0001);

Prefixed ID : #117650;

Details

Origin ID

117650;

UMLS CUI

C0265342;

Automatic exact mappings (from CISMeF team)
- Cerebrocostomandibular syndrome [ICD-11 More detail]
- Cytarabine/Methotrexate [NCIt concept]
- cerebrocostomandibular syndrome [DO Concept]
Currated CISMeF NLP mapping
- Cerebro-costo-mandibular syndrome (disorder) [SNOMED CT concept]
- Cerebrocostomandibular syndrome [PASCAL descriptor]
- Cerebrocostomandibular syndrome [ORDO Disease]
- cerebro-costo-mandibular syndrome [SNOMED Notion]
- cerebrocostomandibular syndrome [MeSH concept]
- cerebrocostomandibular syndrome [MeSH Supplementary Concept]
DO Cross reference
- cerebrocostomandibular syndrome [DO Concept]
Genes related to phenotype
- Small nuclear ribonucleoprotein polypeptides b and b1 [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Abnormality of the dentition [HPO term]
- Anal stenosis [HPO term]
- Anomalous rib insertion to vertebrae [HPO term]
- Anomalous tracheal cartilage [HPO term]
- Anteriorly placed anus [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Calcaneal epiphyseal stippling [HPO term]
- Cleft soft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital hip dislocation [HPO term]
- Ectopic kidney [HPO term]
- Elbow flexion contracture [HPO term]
- Epicanthus [HPO term]
- Gastroesophageal reflux [HPO term]
- Glossoptosis [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Horseshoe kidney [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Nasal speech [HPO term]
- Neonatal respiratory distress [HPO term]
- Patent ductus arteriosus [HPO term]
- Polyhydramnios [HPO term]
- Porencephalic cyst [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Renal cyst [HPO term]
- Rib gap [HPO term]
- Scoliosis [HPO term]
- Severe micrognathia [HPO term]
- Short hard palate [HPO term]
- Short humerus [HPO term]
- Thoracic hypoplasia [HPO term]
- Ventricular septal defect [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Cerebrocostomandibular syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebro-costo-mandibular syndrome (disorder) [SNOMED CT concept]
- Cerebrocostomandibular syndrome [ORDO Disease]
- Cerebrocostomandibular syndrome [PASCAL descriptor]
- Cerebrocostomandibular syndrome [MedDRA Preferred Term]
- cerebro-costo-mandibular syndrome [SNOMED Notion]
- cerebrocostomandibular syndrome [MeSH Supplementary Concept]
- cerebrocostomandibular syndrome [MeSH concept]
- cerebrocostomandibular syndrome [DO Concept]

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