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Townes-Brocks syndrome
rareTownes-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.
- Identifiers
- MONDO:0007142 Orphanet:857
- Part of
- Autosomal dominant diseaseCongenital limb malformationMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- anus, imperforate, with hand, foot and ear anomalies · deafness, sensorineural, with imperforate anus and hypoplastic thumbs · imperforate anus with hand, foot and ear anomalies · rear syndrome · renal-ear-anal-radial syndrome
Subtypes
| Disease | Subtypes |
|---|---|
| Townes-Brocks syndrome 1 | |
| Townes-Brocks syndrome 2 |
Rare disease
Projects
Including projects on subtypes.
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