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Townes-Brocks syndrome 1

Synonyms
Anus, imperforate, with hand, foot and ear anomalies; DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES; Deafness, sensorineural, with imperforate anus and hypoplastic thumbs; REAR SYNDROME; RENAL-EAR-ANAL-RADIAL SYNDROME

Summary

Townes-Brocks syndrome (TBS) is characterized by the triad of imperforate anus (84%), dysplastic ears (87%; overfolded superior helices and preauricular tags; frequently associated with sensorineural and/or conductive hearing impairment [65%]), and thumb malformations (89%; triphalangeal thumbs, duplication of the thumb [preaxial polydactyly], and rarely hypoplasia of the thumbs). Renal impairment (42%), including end-stage renal disease (ESRD), may occur with or without structural abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoutereral reflux). Congenital heart disease occurs in 25%. Foot malformations (52%; flat feet, overlapping toes) and genitourinary malformations (36%) are common. Intellectual disability occurs in approximately 10% of individuals. Rare features include iris coloboma, Duane anomaly, Arnold-Chiari malformation type 1, and growth retardation. [from GeneReviews]

Available tests

57 tests are in the database for this condition.

Clinical tests (57 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HEL-S-89, HSAL1, Sal-1, TBS, ZNF794, SALL1
    Summary: spalt like transcription factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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