arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Findings
No curated finding names arthrogryposis-like hand anomaly-sensorineural deafness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.
Definition from the Mondo Disease Ontology (MONDO:0007159), read 2026-09-29. CC BY 4.0.
Features
5 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.
- ArachnodactylyHPOHP:0001166
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- CachexiaHPOHP:0004326
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: arthrogryposis-like hand anomaly-sensorineural deafness syndrome
- Also called
- distal arthrogryposis type 6