spondyloepimetaphyseal dysplasia, Shohat type
MeSH: C566523ORPHA: 93352
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, Shohat type, sourced from HPO and Orphanet clinical annotations.
PlatyspondylyScoliosisArthralgiaFlared metaphysisMetaphyseal wideningShort long bonePremature osteoarthritisAbnormal vertebral morphologyDisproportionate short statureSevere short statureThoracic hypoplasiaAbnormal epiphysis morphologyGeneralized bone demineralizationCentral vertebral hypoplasiaShort neckHepatosplenomegalyLaryngeal stenosisHoarse voiceDelayed epiphyseal ossificationTracheal stenosisUpper airway obstructionVertebral compression fractureGenu varumBowing of the legsMetaphyseal irregularityFibular overgrowthAbdominal distentionHyperlordosisSquared-off platyspondylyNarrow vertebral interpedicular distanceLimb undergrowthAbnormal bronchus morphologyJoint hypermobility
Classification & Codes
MeSH Code
C566523Orphanet Code
ORPHA:93352spondyloepimetaphyseal dysplasia, Shohat type
| MeSH | C566523 |
| Orphanet | ORPHA:93352 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO