Pacman dysplasia
MeSH: C538095ORPHA: 1952
Overview
medical condition
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 Pacman dysplasia, sourced from HPO and Orphanet clinical annotations.
HypotelorismPatent ductus arteriosusAbnormal calvaria morphologyGenu varumCoronal cleft vertebraeLethal skeletal dysplasiaBowing of the long bonesEpiphyseal stipplingAbnormal bone ossificationCoarse metaphyseal trabecularization
Classification & Codes
MeSH Code
C538095Orphanet Code
ORPHA:1952Pacman dysplasia
| MeSH | C538095 |
| Orphanet | ORPHA:1952 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO