Opitz BBB/G syndrome (Q55328)

Opitz BBB/G syndrome is a genetic disorder characterised by the association of craniofacial anomalies (including hypertelorism with telecanthus, a wide nasal bridge, and sometimes cleft palate/ lip) genito-urinal abnormalities (with hypospadias in affected males) malformations of larynx, pharynx and/or trachea (causing difficulties to swallow and breathe) and, less frequently, other anomalies of the ventral midline. Intelligence may be normal but mild intellectual deficit may occur