Print friendly version
Other Names for this 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.
 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.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Pycnodysostosis. We will answer your question and update these pages with new resources and information.
- 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) database contains genetics resources that discuss Pycnodysostosis. Click on the link to go to OMIM and review these resources.
- 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.