Townes-Brocks syndrome (Q94214): Difference between revisions
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Síndrome de Townes-Brocks é uma síndrome de anomalias do desenvolvimento caracterizada por quatro sinais principais: defeitos anais, variando de anteversão anal simples a um ânus imperfurado com uma fístula retovaginal; malformação da orelha externa (apêndices pré-tragiais, malformação da hélice, meato acústico externo estenosado); anomalias dos dígitos (polegar trifalangiano, polegar bífido, hexadactilia); e todos os tipos e graus de surdez. | |||
| description / en | description / en | ||
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. | |||
Revision as of 09:20, 16 August 2026
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 |
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| 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. |
