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.
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anus, imperforate, with hand, foot and ear anomalies; anus, imperforate, with hand, foot, and Ear anomalies; deafness, sensorineural, with imperforate anus and hypoplastic thumbs; deafness, sensorineural, with imperforate anus and thumb anomalies; imperforate anus with hand, foot and ear anomalies;
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MedGen: MeSH: OMIM: MSeqDR : Genes:
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Disease Causing ClinVar Variants
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