Kyphomelic dysplasia
MeSH: C538128ORPHA: 1801
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 Kyphomelic dysplasia, sourced from HPO and Orphanet clinical annotations.
MicrognathiaNarrow chestLateral clavicle hookAnterior rib cuppingMissing ribsAbnormal metaphysis morphologyLarge handsHypotoniaLimitation of joint mobilityJoint stiffnessMicromeliaFlat acetabular roofAbnormal form of the vertebral bodiesDisproportionate short statureBowing of the long bonesShort thoraxUndulate ribsFlat face
Classification & Codes
MeSH Code
C538128Orphanet Code
ORPHA:1801Kyphomelic dysplasia
| MeSH | C538128 |
| Orphanet | ORPHA:1801 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO