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
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
