Синдром Таунса-Брокса
ORPHA:857· ICD-10 Q87.8· Townes-Brocks syndrome
Визначення(English summary)
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.
- Поширеність
- 1-9 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- All ages