17p11.2 microduplication syndrome

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Synonyms: Potocki-Lupski syndrome | Trisomy 17p11.2

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 17 typically characterized by hypotonia poor feeding failure to thrive developmental delay (particularly cognitive and language deficits) mild-moderate intellectual deficit and neuropsychiatric disorders (behavioral problems anxiety attention deficit hyperactivity disorder autistic spectrum disorder bipolar disorder). Structural cardiovascular anomalies (dilated aortic root bicommissural aortic valve atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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17p11.2 microduplication syndrome?

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Advocacy Organizations

PTLS Hope Research Foundation

The PTLS Hope Research Foundation advances research, raises awareness, and supports those affected by Potocki Lupski Syndrome (PTLS) by funding innovative research, increasing awareness, and fostering professional collaboration. PTLS, a rare genetic disorder affecting 1 in 20,000 individuals, presents complex challenges, including physical and intellectual disabilities.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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