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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pyle disease


Other Names for this Disease
  • Metaphyseal dysplasia
  • Metaphyseal dysplasia Pyle type
  • Pyle's disease
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Your Question

What is Pyle disease? Is it genetic?

Our Answer

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What is Pyle disease?

Pyle disease is a bone disorder characterized by genu valgum (knock knees), Erlenmeyer flask deformity (where there is relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone), widening of the ribs and clavicles (collarbones), platyspondyly (flattening of the bones of the spine) and cortical thinning. Only about 30 cases have been reported in the literature. Cranial involvement is minimal with some showing mild hyperostosis (excessive new bone formation ) of the skull base and thickening of the frontal and occipital bones. Pyle disease is passed through families in an autosomal recessive manner.[1][2]
Last updated: 9/16/2013

Is Pyle disease inherited?

Pyle disease in inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.[1][2] The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they often don't have any signs and symptoms of the condition. Some carriers (obligate heterozygotes) of Pyle disease show minor skeletal changes.[2]
Last updated: 9/16/2013

References