A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face prominent forehead down-slanting palpebral fissures prominent nose with broad nasal bridge prominent chin) pre- and postnatal overgrowth renal anomalies (e.g. horseshoe kidney renal agenesis hydronephrosis) mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.
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 September 2024
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15q overgrowth syndrome?
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Advocacy Organizations
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.
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
For a list of clinical trials in this disease area, please click here.