spondylometaphyseal dysplasia, 'corner fracture' type
MeSH: C535793ORPHA: 93315
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with spondylometaphyseal dysplasia, 'corner fracture' type, sourced from HPO and Orphanet clinical annotations.
Coxa varaMetaphyseal irregularityOvoid vertebral bodiesAbnormal vertebral morphologyCorner fracture of metaphysisShort staturePectus carinatumLimitation of joint mobilityScoliosisGenu valgumGenu varumShort long boneDisproportionate short-trunk short statureShort lower limbsLimb painUpper limb undergrowthAbnormal bone ossificationHigh palatePointed chinFacial asymmetryPosteriorly rotated earsPreauricular skin tagSmall earlobeProtruding earVisual impairmentProptosisMyopiaPlatyspondylyLumbar hyperlordosisIntervertebral space narrowingVertebral fusionTibial bowingBiconcave vertebral bodiesBiconvex vertebral bodiesVertebral hypoplasiaVertebral wedgingUnderfolded helixAbnormal antitragus morphologyFlat faceLower limb asymmetryAbnormality of the dentitionShort neckStrabismusIron deficiency anemiaIncreased susceptibility to fracturesHypoplastic iliac wingReduced bone mineral densityAvascular necrosis of the capital femoral epiphysisOcular hypertensionC1-C2 vertebral abnormalityShort distal phalanx of fingerClinodactylyAbnormal circulating osteocalcin levelIncreased urinary type 1 collagen N-terminal telopeptide level
Classification & Codes
MeSH Code
C535793Orphanet Code
ORPHA:93315spondylometaphyseal dysplasia, 'corner fracture' type
| MeSH | C535793 |
| Orphanet | ORPHA:93315 |
| Treatments | 0 drug(s) |
| Symptoms on record | 54 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO