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Other Names for this Disease
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 Pycnodysostosis is an autosomal recessive genetic condition. The gene has been mapped to the same location as the gene for cathepsin K on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Management is symptomatic. Individuals need orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery may be needed.Pycnodysostosis is a rare condition characterized by moderate short stature (1.35m to 1.5m), increased density of the bones (osteosclerosis/osteopetrosis), underdevelopment of the tips of the fingers with absent or small nails, an abnomal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead and dental abnormalities.
Last updated: 7/1/2010
- Alves-Pereira, D., Berini-Aytes, L. and Gay-Escoda, C.. Med Oral Patol Oral Cir Bucal. Oct 2008; http://www.medicinaoral.com/medoralfree01/v13i10/medoralv13i10p633.pdf. Accessed 1/1/1900.
- Pyknodysostosis. National Organization for Rare Disorders . http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pyknodysostosis. Accessed 6/1/2010.
- Pycnodysostosis. Orphanet. December 2008; http://www.orpha.net/consor/cgi-bin/index.php?lng=EN. Accessed 6/30/2010.
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- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an 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 Pycnodysostosis. Click on the link to view a sample search on this topic.