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Townes-Brocks syndromeA rare autosomal dominant syndrome (OMIM:107480) characterised by multiple malformations, including imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss.
Some individuals with SALL1 mutations have a variant phenotype overlapping bronchio-oto-renal syndrome with dysplastic ears, hypoplastic kidneys with impaired renal function, gastro-oesophageal reflux, hypermetropia, hypospadias and mild developmental delay. Affected individuals lack the characteristic anal or hand malformations of TBS.
Defects of SALL1, which encodes a transcription repressor involved in organogenesis, cause Townes-Brocks syndrome.
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