Other Names for this Disease
- Deletion of chromosome 11p11.2
- Proximal 11p deletion syndrome
- 11p11.2 deletion
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Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, autism and problems with vision and hearing. In some cases, individuals with the syndrome may have a defect in the heart, kidneys, or urinary tract. The features of Potocki-Shaffer syndrome result from the loss of several genes on the short (p) arm of chromosome 11. In particular, the deletion of a gene called ALX4 causes enlarged parietal foramina, while the loss of another gene, EXT2, causes the multiple exostoses. Another condition called WAGR syndrome is caused by a deletion of genetic material in the p arm of chromosome 11, specifically at position 11p13. Occasionally, a deletion is large enough to include the 11p11.2 and 11p13 regions. Individuals with such a deletion have signs and symptoms of both Potocki-Shaffer syndrome and WAGR syndrome. A referral to an early childhood intervention and developmental-behavioral specialist at the time of diagnosis and to have an evaluation for vision and hearing problems, as well as a full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, is recommended.
Last updated: 9/22/2015
- Chromosome 11. Genetics Home Reference (GHR). October, 2012; http://ghr.nlm.nih.gov/chromosome=11. Accessed 9/22/2015.
- Potocki-Shaffer syndrome. Orphanet. March 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=52022.0. Accessed 9/22/2015.
- Potocki-Shaffer syndrome. OMIM. June 15, 2014; http://omim.org/entry/601224#. Accessed 9/22/2015.
- Levenson D. New information, Recommendations for Potocki-Shaffer syndrome. Am J Med Genet. March, 2010; 152A(3):fm x. http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33289/full#sec1-1. Accessed 9/22/2015.
- The FAQs About Chromosome Disorders provides general information about chromosomes, what they do, the different types of chromosome disorders, and how they occur. This guide also provides suggestions for how to connect with other patients, locate research studies, and find additional information.
- Genetics Home Reference (GHR) contains information on Potocki-Shaffer syndrome. This website is maintained by the National Library of Medicine.
- 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 Potocki-Shaffer syndrome. Click on the link to view a sample search on this topic.