Thoracomelic dysplasia
ORPHA: 1803
Overview
human disease
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 Thoracomelic dysplasia, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityAbnormal metaphysis morphologyBell-shaped thoraxLow posterior hairlineAbnormal pelvic girdle bone morphologyGenu valgumAbnormal fibula morphologyElbow dislocationHyperlordosisDiaphyseal undertubulationDisproportionate short-limb short statureLimb undergrowthFlat faceShort neckGait disturbanceRound faceShort ribsNarrow chest
Classification & Codes
Orphanet Code
ORPHA:1803Thoracomelic dysplasia
| Orphanet | ORPHA:1803 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO