Other Names for this Disease
- Metaphyseal dysplasia
- Pyle's disease
- Metaphyseal dysplasia Pyle type
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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.Pyle disease is a bone disorder characterized by
Last updated: 9/16/2013
- Pyle disease. Orphanet. June 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3005. Accessed 9/16/2013.
- 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.
On this page
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.