Cerebro-costo-mandibular syndrome

Disease Overview

Cerebro-costo-mandibular syndrome (CCMS) is a very rare condition characterized by severe micrognathia (abnormally small jaw), abnormalities of the roof of the mouth (palate), and rib defects. Other signs and symptoms may include intellectual disability and microcephaly (small head size). In some cases, the features cause respiratory problems in early infancy and can be life-threatening.[7409][7410] Most cases appear to occur randomly (sporadically), but both autosomal dominant and autosomal recessive inheritance have been reported.[7410] No specific gene known to cause the condition has been identified.[7411] Treatment and prognosis depend on the features and severity in each affected person.[7411]

Synonyms

• CCM syndrome
• Rib gap defects with micrognathia
• Cerebrocostomandibular syndrome
• CCMS