11p15.4 microduplication syndrome

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Synonyms: Dup(11)p(15.4) | Trisomy 11p15.4

A rare partial autosomal trisomy/tetrasomy characterized by obesity global developmental delay and intellectual disability facial dysmorphism (synophrys high-arched eyebrows large posteriorly rotated ears upturned nose long smooth philtrum overbite and high palate) large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.

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 July 2024

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11p15.4 microduplication syndrome?

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Advocacy Organizations

3:1 Neuropsychology Consultants, PLLC

Center For Ichthyosis RElated Members Foundation India

Mission Statement To preserve and protect the health of and to relieve persons affected by ichthyosis and any associated condition. To enabled the basic knowledge of medical professionals and the general public on the subject of ichthyosis and its implications for the family. To promote research into the management of ichthyosis and to publish the useful results , and support patients.

Malaysian Rare Disorders Society

1. Provide support to individuals and families affected with Rare Disorders. 2. Develop strategies and programs to raise public and professional 3. Ensure Human Rights of access to healthcare education, job opportunities are upheld. 4. Participate in the formulation and implementation national policies in Malaysia related to person with rare disorders and rare disorders

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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