chondrodysplasia Blomstrand type
MeSH: C537914ORPHA: 50945
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 chondrodysplasia Blomstrand type, sourced from HPO and Orphanet clinical annotations.
Malar flatteningLong philtrumMicrognathiaLow-set earsAnteverted naresTelecanthusCataractProptosisNatal toothShort ribsNarrow chestBroad claviclesPlatyspondylyProtuberant abdomenPolyhydramniosPremature birthCoarctation of aortaHydrops fetalisPulmonary hypoplasiaFlared metaphysisMetaphyseal cuppingMesomeliaShort noseDepressed nasal bridgeAccelerated skeletal maturationLethal skeletal dysplasiaAbnormal epiphysis morphologyDistal shortening of limbsBowing of the long bonesAplastic clavicleRhizomeliaNeonatal short-limb short statureShort metacarpalShort thoraxProtruding tongueIncreased bone mineral densitySynostosis of joints
Classification & Codes
MeSH Code
C537914Orphanet Code
ORPHA:50945chondrodysplasia Blomstrand type
| MeSH | C537914 |
| Orphanet | ORPHA:50945 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO