Metaphyseal dysplasia, Pyle type
MeSH: C536252ORPHA: 3005
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 Metaphyseal dysplasia, Pyle type, sourced from HPO and Orphanet clinical annotations.
Genu valgumErlenmeyer flask deformity of the femursMandibular prognathiaProtruding earCarious teethDental malocclusionIncreased susceptibility to fracturesEnlarged metaphysesCraniofacial osteosclerosisMedial widening of claviclesDelayed eruption of permanent teethPlatyspondylyMuscle weaknessWormian bonesScoliosisArthralgiaBack painThin calvarium
Classification & Codes
MeSH Code
C536252Orphanet Code
ORPHA:3005Metaphyseal dysplasia, Pyle type
| MeSH | C536252 |
| Orphanet | ORPHA:3005 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO