Potocki-Shaffer syndrome

Proximal 11p deletion syndrome, Chromosome 11p11.2 deletion syndrome

Overview

Type of disease: Rare conditions

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, and problems with vision. The features of Potocki-Shaffer syndrome result from the loss of several genes on the short arm of chromosome 11.

Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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