SNP Shot: Genomic Insights

Pyle disease is a bone condition characterized by unusual widening of the ends (metaphyses) of the long bones, particularly in the arms and legs. This widening gives the bones a shape similar to a boat oar or paddle. The enlargement is due to an increase in the spongy, inner part of the bone (trabecular bone). However, the hard, outer layer of the bone (cortical bone) is thinner than it should be. This combination makes the bones brittle and prone to fractures. Knock knees (genu valgum) are a frequent finding in those affected due to bone abnormalities in the legs.

In addition to the long bone issues, people with Pyle disease can also experience other skeletal problems. These may include broadened collarbones (clavicles), ribs, or finger and hand bones. Dental problems are also common, such as delayed eruption of permanent teeth and a misalignment of the upper and lower teeth (malocclusion).

Inheritance:

Pyle disease is an autosomal recessive inherited condition. This means that a person must inherit a mutated copy of the SFRP4 gene from both parents to develop the disorder. Each parent of an affected individual carries one copy of the mutated gene and is typically unaffected, although they might show mild long bone irregularities.