Caudal appendage-deafness syndrome
ORPHA:1123· ICD-10 Q87.8
Definition
A rare multiple congenital anomalies/dysmorphic syndrome characterized by caudal appendage, short terminal phalanges and deafness. Additional clinical features may include short stature, intellectual disability, facial dysmorphism and cryptorchidism. There have been no further descriptions in the literature since 1994.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal