Pyle disease is a disorder of the bones. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. The broad metaphyses are due to enlargement of the spongy inner layer of bone (trabecular bone). Although trabecular bone is expanded, the dense outermost layer of bone (cortical bone) is thinner than normal. As a result, the bones are fragile and fracture easily. The bone abnormalities in the legs commonly cause knock knees (genu valgum) in affected individuals.
Other bone abnormalities can also occur in Pyle disease. Affected individuals may have widened collar bones (clavicles), ribs, or bones in the fingers and hands. Dental problems are common in Pyle disease, including delayed appearance (eruption) of permanent teeth and misalignment of the top and bottom teeth (malocclusion).
Inheritance Pattern
Autosomal recessive
Other Names
Metaphyseal dysplasia, Pyle type; Pyle metaphyseal dysplasia; Pyle's disease; Pyle's metaphyseal dysplasia syndrome
Related Genetics Topics
- SFRP4 — MedlinePlus Genetics
Identifiers
- GTR: C0265294
- ICD-10-CM: Q78.5
- MeSH: D010009
- OMIM: 265900
- SNOMED CT: 27837003
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
