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. Most cases appear to occur randomly (sporadically), but both autosomal dominant and autosomal recessive inheritance have been reported. No specific gene known to cause the condition has been identified. Treatment and prognosis depend on the features and severity in each affected person.

In a person with an autosomal recessive condition, both copies of the responsible gene in each cell must have a change (mutation). In these cases, the affected person usually inherits one mutated copy of the gene from each parent, both of whom are likely unaffected.

In a person with an autosomal dominant condition, having only one mutated copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. An autosomal dominant condition may be inherited from an affected parent, or the mutation may occur for the first time in the affected person. When someone with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene.

Affected people from families suggesting autosomal recessive or autosomal dominant inheritance have overlapping features. In both groups, the severity varies, both among affected members of the same family and between families. The different patterns of inheritance seen support the likelihood that there is more than one genetic cause of CCMS.