Potocki-Shaffer syndrome
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Potocki-Shaffer syndrome is a contiguous gene syndrome associated with deletions in 11p11.2.[1][2][3] 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, delayed development, a distinctive facial appearance, and problems with vision. The features of Potocki-Shaffer syndrome result from the loss of several genes on the short arm of chromosome 11.[1][2][3]
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- More Detailed Information (Found: 4 Resources)
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Potocki-Shaffer syndrome. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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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.
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The University of Washington, Spokane has developed an information page about Potocki-Shaffer syndrome. Click on the link to access this information.
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
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GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
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