caudal appendage-deafness syndrome
MeSH: C537713ORPHA: 1123
Overview
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.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with caudal appendage-deafness syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismIntellectual disabilityAbnormal facial shapeCaudal appendageShort statureInfantile sensorineural hearing impairmentAbnormal digit morphology
Classification & Codes
MeSH Code
C537713Orphanet Code
ORPHA:1123caudal appendage-deafness syndrome
| MeSH | C537713 |
| Orphanet | ORPHA:1123 |
| Treatments | 0 drug(s) |
| Symptoms on record | 7 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO