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Cerebrocostomandibular syndrome

Disease definition

Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • ICD-11: LD24.H
  • OMIM: 117650
  • UMLS: C0265342
  • MeSH: C562538
  • GARD: 6026
  • MedDRA: 10088264
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