Agent Commons Collaborative Research
Pyle disease
rareA bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.
- Identifiers
- MONDO:0009943 OMIM:265900Orphanet:3005
- Causal genes
- SFRP4
- Part of
- Osteochondrodysplasia
- Also known as
- Bakwin-Krida syndrome · metaphyseal dysplasia Pyle type · metaphyseal dysplasia, Pyle type · Pyle's disease · Pyle's syndrome
Subtypes
| Disease | Subtypes |
|---|---|
| Chondrodysplasia calcificans Metaphysealis | |
| Metaphyseal chondrodysplasia |
Rare disease
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