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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pycnodysostosis


Other Names for this Disease
  • Pyknodysostosis
  • PKND
  • PYCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1][2] Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21.[3][4] 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.[3]
Last updated: 5/10/2016

References

  1. 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.
  2. Pyknodysostosis. National Organization for Rare Disorders. 2005; http://rarediseases.org/rare-diseases/pyknodysostosis/.
  3. Le Merrer M. Pycnodysostosis. Orphanet. December 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763.
  4. 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/.
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Basic Information

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 Pycnodysostosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Pyknodysostosis
  • PKND
  • PYCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.