11p15.4 microduplication syndrome

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11p15.4 microduplication syndrome

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 September 2023.

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11p15.4 microduplication syndrome?

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Advocacy Organizations

Youngtimers Inc.

Youngtimers, formed in 2019, is a non-profit that is dedicated to promoting education, community, support, and research to improve the lives of individuals and families with early onset Alzheimer’s disease or dementia. Early onset familial Alzheimer’s disease is a rare genetic form of Alzheimer’s disease caused by the inheritance of autosomal dominant mutations in one of three genes: amyloid precursor protein (APP), presenilin 1 (PSEN1), or presenilin 2 (PSEN2). Unlike the more common sporadic form of Alzheimer’s disease, individuals with these mutations start developing dementia and other disease-related symptoms usually in their 30s-50s. It is estimated that approximately 45,000 individuals are at-risk for this disease globally. Providing support for these patients is not only advantageous to this specific disease community, but the larger Alzheimer’s disease community as well. These patients have proven essential in understanding and elucidating how Alzheimer’s disease develops in the brain and are involved in testing investigational drugs that target Alzheimer’s disease. Helping this community continue to stay engaged in research will ultimately help the rest of the world affected by Alzheimer’s disease.

3:1 Neuropsychology Consultants, PLLC

To disseminate information for disease awareness, consult on neuropsychological and educational issues, present at conferences nationally and internationally and conduct seminars. Promote understanding of brain-behavior relationships in rare genetic and neurodegenerative diseases and inborn errors of metabolism. To apply expertise in neurocognitive and neurobehavioral outcomes for natural history

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

Clinical Trials

For a list of clinical trials in this disease area, please click here.