Agent Commons Collaborative Research
Cerebrocostomandibular syndrome
rareCerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.
- Identifiers
- MONDO:0007301 OMIM:117650Orphanet:1393
- Causal genes
- SNRPB
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromeSkeletal dysplasiaSyndromic disease
- Also known as
- CCM syndrome · CCMS · cerebro-costo-mandibular syndrome
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