spondyloepimetaphyseal dysplasia, Sponastrime type
MeSH: C535786ORPHA: 93357
Overview
spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has material basis in autosomal recessive inheritance
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, Sponastrime type, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityAbnormality of the vertebral columnPlatyspondylyAbnormal facial shapeDepressed nasal bridgeDisproportionate short-limb short statureMidface retrusionBrachydactylyIntrauterine growth retardationSmall for gestational ageGenu valgumMetaphyseal irregularityBiconcave vertebral bodiesRhizomeliaLimb undergrowthMetaphyseal striationsShort femoral neckHypospadiasLong faceEpicanthusMandibular prognathiaWide noseAnteverted naresCataractNystagmusMicrodontiaDelayed eruption of permanent teethHypothyroidismPrecocious pubertyBroad palmGlobal developmental delayLimited elbow extensionSubglottic stenosisWeak voicePes planusBroad footShort footDecreased total neutrophil countFrontal bossingChiari malformationScoliosisDelayed epiphyseal ossificationKyphoscoliosisGeneralized joint hypermobilityCoxa varaHip dislocationLumbar hyperlordosisFlared metaphysisMetaphyseal wideningShort long boneMesomeliaShallow acetabular fossaeShort noseFlat capital femoral epiphysisFlattened humeral epiphysesShort palmDecreased circulating immunoglobulin concentrationRelative macrocephalyHyperconvex vertebral body endplatesHypoplasia of the nasal boneDilatation of the cerebral arteryObtuse angle of mandibleAvascular necrosis of the capital femoral epiphysisShort dental rootRecurrent pneumoniaBorderline intellectual disabilityCongenital aphakiaIvory epiphyses of the phalanges of the handSmall epiphysesOsteopathia striataAplasia of the nasal boneProminent foreheadMicrocoriaHip subluxationNeck painShoulder painKnee painHypoplasia of the dental rootLower limb asymmetry
Classification & Codes
MeSH Code
C535786Orphanet Code
ORPHA:93357spondyloepimetaphyseal dysplasia, Sponastrime type
| MeSH | C535786 |
| Orphanet | ORPHA:93357 |
| Treatments | 0 drug(s) |
| Symptoms on record | 79 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO