Summary
Cerebro-costo-mandibular syndrome is characterized at birth by palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia, and glossoptosis. It is a rare entity reported in about sixty patients since its first description in 1963. Cleft palate and glossoptosis contribute to neonatal respiratory distress, which is often the first clinical sign. Microcephaly is present in about 25% of cases. Although intellectual deficit was also reported, it has been suggested that it might not be an inherent feature of the syndrome and instead was a frequent consequence of neonatal respiratory distress. Gaps in the posterior portion of affected ribs revealed at X-ray are a sine qua non for diagnosis and may lead to ``flail chest'', traditionally described as the paradoxical movement of a segment of chest wall due to broken ribs. Intrauterine and postnatal growth retardation are common. A barking cough in rare cases suggested a tracheal cartilage abnormality. Associated malformations were described in a few cases: spina bifida, absence of external ear canals. Both sexes are equally affected. Both autosomal recessive and autosomal dominant patterns of inheritance have been observed among familial cases. Some of the reported cases are sporadic, but, according to one author, the possibility exists that some teratogenic agent has played a role in some of these cases, although no specific substance has been suggested. Prenatal diagnosis has been made by ultrasonography through the detection of post-nuchal edema and other features (absent ribs, severe micrognathia, agnathia) in a few severe forms of the syndrome, and in these cases the pregnancies were terminated. Infants with severe forms died within the first few hours or, more often, first few months after birth. However, less severe forms of the syndrome have also been described in adults that were parents of affected children. *Author: Orphanet (May 2004)*.
