spondylometaphyseal dysplasia, A4 type
MeSH: C563803ORPHA: 168555
Overview
human disease
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, A4 type, sourced from HPO and Orphanet clinical annotations.
PlatyspondylyLimitation of joint mobilitySpondylometaphyseal dysplasiaCoxa varaMicromeliaSevere short statureShort palmFlared, irregular rib ends
Classification & Codes
MeSH Code
C563803Orphanet Code
ORPHA:168555spondylometaphyseal dysplasia, A4 type
| MeSH | C563803 |
| Orphanet | ORPHA:168555 |
| Treatments | 0 drug(s) |
| Symptoms on record | 8 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO