Синдром хвостоподібного придатку-глухоти
ORPHA:1123· ICD-10 Q87.8· Caudal appendage-deafness syndrome
Визначення(English summary)
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Neonatal