spondyloepimetaphyseal dysplasia with multiple dislocations
MeSH: C535784ORPHA: 93360
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 spondyloepimetaphyseal dysplasia with multiple dislocations, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilitySkeletal dysplasiaEpiphyseal dysplasiaShort statureMidface retrusionPlatyspondylySlender fingerSmall for gestational ageLaryngeal stenosisAbnormal metatarsal morphologySpondyloepimetaphyseal dysplasiaDelayed epiphyseal ossificationGeneralized joint hypermobilityGenu valgumGenu varumMetaphyseal irregularityPremature osteoarthritisAbnormally shaped carpal bonesSlender metacarpalsLaryngotracheomalaciaNeonatal short-trunk short statureAplasia/hypoplasia of the extremitiesAbnormal curvature of the vertebral columnMultiple joint dislocationFlat faceMetaphyseal striationsAbnormality of limbsFragmented epiphysesStrabismusSeizureScoliosisKyphoscoliosisKyphosisHip dislocationElbow flexion contractureRadial head subluxationFlat capital femoral epiphysisNeonatal inspiratory stridorThoracolumbar kyphosisAirway obstructionHip subluxation
Classification & Codes
MeSH Code
C535784Orphanet Code
ORPHA:93360spondyloepimetaphyseal dysplasia with multiple dislocations
| MeSH | C535784 |
| Orphanet | ORPHA:93360 |
| Treatments | 0 drug(s) |
| Symptoms on record | 41 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO