proximal symphalangism
Findings
No curated finding names proximal symphalangism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.
Definition from the Mondo Disease Ontology (MONDO:0008511), read 2026-09-29. CC BY 4.0.
Features
15 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.
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Proximal symphalangismHPOHP:0100264
- Very frequent (80% to 99% of cases)
- Synostosis of carpal bonesHPOHP:0005048
- Very frequent (80% to 99% of cases)
- Tarsal synostosisHPOHP:0008368
- Very frequent (80% to 99% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Elbow ankylosisHPOHP:0003070
- Frequent (30% to 79% of cases)
- Elbow dislocationHPOHP:0003042
- Frequent (30% to 79% of cases)
- Finger clinodactylyHPOHP:0040019
- Frequent (30% to 79% of cases)
- Metacarpophalangeal synostosisHPOHP:0005880
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
- Abnormality of the wristHPOHP:0003019
- Occasional (5% to 29% of cases)
Show the remaining 3
- Clinodactyly of the 5th fingerHPOHP:0004209
- Occasional (5% to 29% of cases)
- Finger syndactylyHPOHP:0006101
- Occasional (5% to 29% of cases)
- StrabismusHPOHP:0000486
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (2)
Other names
2 names
Resolves to: proximal symphalangism
- Also called
- proximal symphalangism (disease)symphalangism, Cushing type