spondylometaphyseal dysplasia, Schmidt type
MeSH: C535794ORPHA: 93316
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, Schmidt type, sourced from HPO and Orphanet clinical annotations.
Abnormality of the vertebral columnAbnormal metaphysis morphologyMetaphyseal dysplasiaPlatyspondylyHip dysplasiaScoliosisCoxa varaAbnormality of the kneeGenu valgumAbnormal ilium morphologyNarrow greater sciatic notchSevere short statureDisproportionate short-trunk short statureAbnormality of the epiphysis of the femoral headShort iliac bonesCleft soft palateMicrognathiaStenosis of the external auditory canalMyopiaPolyhydramniosGastroesophageal refluxPoor suckKyphoscoliosisAbnormality of the wristShort long boneIrregular iliac crestIrregular acetabular roofNasogastric tube feeding in infancyGastrostomy tube feeding in infancyShort femoral neck
Classification & Codes
MeSH Code
C535794Orphanet Code
ORPHA:93316spondylometaphyseal dysplasia, Schmidt type
| MeSH | C535794 |
| Orphanet | ORPHA:93316 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO