spondylometaphyseal dysplasia, Sedaghatian type
MeSH: C535798ORPHA: 93317
Overview
Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly
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 spondylometaphyseal dysplasia, Sedaghatian type, sourced from HPO and Orphanet clinical annotations.
TurricephalyAbnormal rib morphologyNarrow chestAbnormal scapula morphologyPlatyspondylyAgenesis of corpus callosumGeneralized hypotoniaPachygyriaCerebellar hypoplasiaAtrioventricular blockRespiratory insufficiencySpondylometaphyseal dysplasiaDelayed skeletal maturationLong fibulaDisproportionate short statureShort palmRhizomelic arm shorteningAccelerated skeletal maturationMetaphyseal chondrodysplasiaCardiorespiratory arrestIliac crest serrationShort metacarpalCone-shaped epiphysisArrhythmiaMyocarditis
Classification & Codes
MeSH Code
C535798Orphanet Code
ORPHA:93317spondylometaphyseal dysplasia, Sedaghatian type
| MeSH | C535798 |
| Orphanet | ORPHA:93317 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO