Townes-Brocks syndrome
MONDO:0007142Also known as: TBS, Townes syndrome, Townes-Brocks syndrome, imperforate anus with hand, foot and ear anomalies, rear syndrome
- MONDO:
- MONDO:0007142
- Orphanet:
- 857 ↗
Rare disease50 associated genes
Description
Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.
Associated genes
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