Disease or Syndrome
Townes syndrome
Definitions related to townes syndrome:
-
(townes-brocks syndrome) A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.OrphaNetINSERM, 2021
-
(townes-brocks syndrome) An autosomal dominant inherited syndrome caused by mutations in the SALL1 gene. Clinical manifestations include imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities.NCI ThesaurusU.S. National Cancer Institute, 2021
-
(townes-brocks syndrome) An autosomal dominant syndrome caused by mutations in the SALL1 gene, and characterized by imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
-
Townes-Brocks syndrome is a genetic condition characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and thumb malformations. Most affected individuals have at least two of these three main features. Other signs and symptoms may include kidney abnormalities, hearing loss, heart defects, genital...National Center for Advancing Translational Sciences
Return to OpenMD Medical Dictionary
> T
This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.