Бранхіо-окуло-фаціальний синдром
ORPHA:1297· ICD-10 Q18.8· Branchio-oculo-facial syndrome
Визначення(English summary)
A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Antenatal, Neonatal