Other Names for this Disease
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 Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal 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: 5/10/2016
- Alves-Pereira, D., Berini-Aytes, L. and Gay-Escoda, C.. Pycnodysostosis. A report of 3 clinical cases. Med Oral Patol Oral Cir Bucal. Oct 2008; 13(10):E633-5. http://www.medicinaoral.com/medoralfree01/v13i10/medoralv13i10p633.pdf.
- Pyknodysostosis. National Organization for Rare Disorders. 2005; http://rarediseases.org/rare-diseases/pyknodysostosis/.
- Le Merrer M. Pycnodysostosis. Orphanet. December 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763.
- Khoja A, Fida M, Shaikh A. Pycnodysostosis with Special Emphasis on Dentofacial Characteristics. Case Rep Dent. 2015 Nov 16; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4663328/.
- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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 Pycnodysostosis. Click on the link to view a sample search on this topic.