Townes-Brocks syndrome (TBS) is an autosomal dominant disorder. Characteristic features of the disease include external ear anomalies called microtia, hearing loss, hand anomalies like preaxial polydactyly/triphalangeal thumbs, imperforate anus and renal malformations.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H00573 Townes-Brocks syndrome
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.
