spondyloepimetaphyseal dysplasia, Strudwick type
ORPHA: 93346
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, Strudwick type, sourced from HPO and Orphanet clinical annotations.
Flared metaphysisAplasia/hypoplasia involving bones of the extremitiesGlossoptosisCoarse facial featuresHypertelorismMicrognathiaHearing impairmentMyopiaShort long boneHypoplastic pubic boneAbnormal vertebral morphologyCervical instabilitySmall epiphysesFlat faceAbnormally ossified vertebraeCarious teethPlatyspondylyDelayed ossification of carpal bonesSpinal cord compressionAbnormal respiratory system physiologyRestricted large joint movementLaryngotracheomalaciaLimited hip movement
Classification & Codes
Orphanet Code
ORPHA:93346spondyloepimetaphyseal dysplasia, Strudwick type
| Orphanet | ORPHA:93346 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO