asphyxiating thoracic dysplasia
MeSH: C537571ORPHA: 474
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 asphyxiating thoracic dysplasia, sourced from HPO and Orphanet clinical annotations.
Renal insufficiencyNephronophthisisNephropathyAbnormal sternum morphologyAbnormal rib morphologyNarrow chestAbnormal clavicle morphologyAbnormal metaphysis morphologyBrachydactylyPostaxial hand polydactylyAbnormality of the liverToe syndactylyShort footPostaxial foot polydactylyRespiratory insufficiencyAbnormal pelvic girdle bone morphologySkeletal dysplasiaMicromeliaShort statureAplasia/Hypoplasia of the lungsAbnormal retinal pigmentationFeeding difficulties in infancyShort thoraxCone-shaped epiphysis
Classification & Codes
MeSH Code
C537571Orphanet Code
ORPHA:474asphyxiating thoracic dysplasia
| MeSH | C537571 |
| Orphanet | ORPHA:474 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO