spondyloepimetaphyseal dysplasia, Irapa type
MeSH: C562958ORPHA: 93351
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 spondyloepimetaphyseal dysplasia, Irapa type, sourced from HPO and Orphanet clinical annotations.
Pectus carinatumAbnormal rib morphologyPlatyspondylyOsteoporosisAbnormal metaphysis morphologyBroad palmAbnormal carpal morphologyGait disturbanceAbnormal joint morphologyLimitation of joint mobilityPes planusBroad footSpondyloepimetaphyseal dysplasiaOsteoarthritisCoxa varaArthralgiaGenu valgumMicromeliaShort palmSynostosis of carpal bonesAbnormal epiphysis morphologyHypoplastic pelvisDisproportionate short-limb short statureUpper limb undergrowthShort metacarpalShort metatarsal
Classification & Codes
MeSH Code
C562958Orphanet Code
ORPHA:93351spondyloepimetaphyseal dysplasia, Irapa type
| MeSH | C562958 |
| Orphanet | ORPHA:93351 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO