Cerebrocostomandibular syndrome
ORPHA:1393· ICD-10 Q87.8
Definition
Cerebro-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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Antenatal, Neonatal