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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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Overview

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

References

  1. Pyle disease. Orphanet. June 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3005. Accessed 9/16/2013.
  2. Gupta N, Kabra M, Das CJ, Gupta AK. Pyle Metaphyseal Dysplasia. Indian Pediatrics. April 17, 2008; http://www.indianpediatrics.net/apr2008/323.pdf . Accessed 9/16/2013.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pyle disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Metaphyseal dysplasia
  • Metaphyseal dysplasia Pyle type
  • Pyle's disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.