proximal symphalangism
MeSH: C536223ORPHA: 3250
Overview
autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness
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 proximal symphalangism, sourced from HPO and Orphanet clinical annotations.
Synostosis of carpal bonesTarsal synostosisProximal symphalangismCamptodactyly of fingerSensorineural hearing impairmentBrachydactylyElbow dislocationElbow ankylosisMetacarpophalangeal synostosisAbnormal metacarpal morphologyFinger clinodactylyStrabismusAbnormality of the wristClinodactyly of the 5th fingerFinger syndactyly
Classification & Codes
MeSH Code
C536223Orphanet Code
ORPHA:3250proximal symphalangism
| MeSH | C536223 |
| Orphanet | ORPHA:3250 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO