caudal appendage-deafness syndrome
MONDO:0015233Mondo
Findings
No curated finding names caudal appendage-deafness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0015233), read 2026-09-29. CC BY 4.0.
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal digit morphologyHPOHP:0011297
- Frequent (30% to 79% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Caudal appendageHPOHP:0002825
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Infantile sensorineural hearing impairmentHPOHP:0008610
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: caudal appendage-deafness syndrome
- Also called
- Lynch-Lee-Murday syndrome