Townes-Brocks syndrome (Q94214)

Townes-Brocks syndrome is a developmental anomalies syndrome characterised by four main signs: anal defects, ranging from simple anal anteversion to an imperforate anus with a rectovaginal fistula; malformation of the external ear (pretragial tags, malformation of the helix, stenosed external acoustic meatus); anomalies of the digits (three-phalanged thumb, bifid thumb, hexadactyly); and all types and degrees of deafness.