Townes‑Brocks syndrom


Engelsk navn: Townes-Brocks syndrome
Engelske synonym: Imperforate anus-hand, foot and ear anomalies syndrome,REAR syndrome,Renal-ear-anal-radial syndrome,Sensorineural deafness with imperforate anus and hypoplastic thumbs,Sensorineural hearing loss with imperforate anus and hypoplastic thumbs,TBS,Townes syndrome


Definisjon

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.

Fra Orphanet

ORPHA: 857
Klassifiseringsnivå: Disorder
ICD-10: Q87.8

Mer informasjon


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