Potocki-Lupski syndrome

Overview

Type of disease: Rare conditions

Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have low muscle tone, poor feeding, and failure to thrive during infancy. They may also present with delayed development of motor and verbal milestones. In addition, many individuals display some behaviors commonly associated with autism spectrum disorders. While most cases of Potocki-Lupski syndrome occur sporadically, in rare cases, it may be inherited. Treatment involves physical, occupational, and speech therapy. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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