Townes-Brocks syndrome (Q94214)
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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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_66554749 |
||
| English | Townes-Brocks syndrome |
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. |
