Spondyloenchondrodysplasia
MeSH: C535782ORPHA: 1855
Overview
developmental defect during embryogenesis
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 Spondyloenchondrodysplasia, sourced from HPO and Orphanet clinical annotations.
PlatyspondylyAntinuclear antibody positivityMetaphyseal dysplasiaSpasticityAutoimmunityShort statureChronic kidney diseaseAnti-dsDNA antibody positivityBrain imaging abnormalityProteinuriaDelayed eruption of teethDental malocclusionAbnormality of the nervous systemHematuriaHypertensionHypoplastic iliaIntellectual disabilityGlobal developmental delayMotor delayArthritisAutoimmune hemolytic anemiaAutoimmune thrombocytopeniaChoreaVentriculomegalyHeadacheCerebral calcificationAbnormal periventricular white matter morphologyVasculitisRecurrent infectionsSystemic lupus erythematosusBowing of the legsMyalgiaDisproportionate short-trunk short statureJuvenile rheumatoid arthritisLimb undergrowthShort distal phalanx of fingerHepatitisLower limb painEnchondromaAbnormal lateral ventricle morphologyRaynaud phenomenonGranulomaPectus carinatumHypothyroidismDecreased response to growth hormone stimulation testSkin rashVitiligoSeizurePancytopeniaPneumoniaKyphosisMidface retrusion
Classification & Codes
MeSH Code
C535782Orphanet Code
ORPHA:1855Spondyloenchondrodysplasia
| MeSH | C535782 |
| Orphanet | ORPHA:1855 |
| Treatments | 0 drug(s) |
| Symptoms on record | 52 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO