Townes-Brocks syndrome
ORPHA:857· ICD-10 Q87.8
Definition
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.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- All ages