17p11.2 microduplication syndrome
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 May 2024
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17p11.2 microduplication syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
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
To fund research for treatment and/or a cure for CASK Gene Disorder
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.