Desbuquois dysplasia
MeSH: C535943ORPHA: 1425
Overview
osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx
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 Desbuquois dysplasia, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityShort neckGlaucomaProptosisAbnormal metaphysis morphologyIntellectual disabilityBell-shaped thoraxPatellar dislocationAbnormal femoral neck/head morphologySevere short statureDepressed nasal bridgeAccelerated skeletal maturationDisproportionate short-limb short statureAplasia/Hypoplasia of the abdominal wall musculatureCamptodactyly of fingerAbnormal eyelash morphologyBlue scleraeVentricular septal defectScoliosisCoxa valgaCoxa varaGenu recurvatumRadioulnar synostosisElbow dislocationClinodactyly of the 5th fingerSparse hairSmall handAnteverted naresPosteriorly rotated ears
Classification & Codes
MeSH Code
C535943Orphanet Code
ORPHA:1425Desbuquois dysplasia
| MeSH | C535943 |
| Orphanet | ORPHA:1425 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO