Cerebrocostomandibular syndrome (Q89136)

Cerebro-costo-mandibular syndrome is a malformation syndrome characterised at birth by palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia, and glossoptosis. Cleft palate and glossoptosis contribute to neonatal respiratory distress, which is often the first manifestation. Microcephaly is present in about 25% of cases.