lethal recessive chondrodysplasia

ORPHA: 1423

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 lethal recessive chondrodysplasia, sourced from HPO and Orphanet clinical annotations.

Narrow chestShort long boneFlared elbow metaphysesAccelerated skeletal maturationGeneralized osteosclerosisLimb undergrowthMicrognathiaPolyhydramniosMacroglossiaEdemaRespiratory distressMicromelia

Classification & Codes

Orphanet Code

ORPHA:1423
lethal recessive chondrodysplasia
OrphanetORPHA:1423
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
lethal recessive chondrodysplasia | OrphanDrug