Townes-Brocks syndrome

Orpha code: 857OMIM code: 617466

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
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
Kod ORPHA
857
Kod OMIM
617466
Kod ICD10
Q87.8
Kod ICD11
LD2F.1Y

No additional description.

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