Townes-Brocks Syndrome

Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are a malformation of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. People with this condition often have at least two of these three major features.

Other signs and symptoms of Townes-Brocks syndrome can include kidney abnormalities, mild to profound hearing loss, eye abnormalities, heart defects, foot abnormalities, and genital malformations. These features vary among affected individuals, even within the same family. Mild intellectual disability or learning problems have been reported in about 10 percent of people with Townes-Brocks syndrome.

Other names

Anal-ear-renal-radial malformation syndrome; Deafness-imperforate anus-hypoplastic thumbs syndrome; Imperforate anus-hand and foot anomalies syndrome; Renal-ear-anal-radial syndrome (REAR); Sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome; Townes syndrome

Inheritance pattern

Autosomal dominant

Related genes

SALL1

Source: MedlinePlus Genetics, U.S. National Library of Medicine.