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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

Excerpted from the GeneReview: SALL1-Related Townes-Brocks Syndrome
SALL1-related Townes-Brocks syndrome (SALL1-TBS) is characterized by the triad of imperforate anus or anal stenosis, dysplastic ears (overfolded superior helices and preauricular tags; frequently associated with sensorineural and/or conductive hearing impairment), and thumb malformations (duplication of the thumb [preaxial polydactyly], triphalangeal thumbs, and, rarely, hypoplasia of the thumbs) without hypoplasia of the radius. Impaired kidney function, including end-stage kidney disease (ESKD), may occur with or without structural abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoureteral reflux). Foot malformations (flat feet, overlapping toes) and genitourinary malformations are common. Congenital heart disease occurs in 15% of affected individuals. Developmental delay and/or learning difficulties occur in approximately 15% of affected individuals. Rare features include growth deficiency, Duane anomaly, iris coloboma, and Chiari I malformation.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Claudio Graziano
Giulia Olivucci
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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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