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.
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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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 Alzheimerâ€™s disease or dementia. Early onset familial Alzheimerâ€™s disease is a rare genetic form of Alzheimerâ€™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 Alzheimerâ€™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 Alzheimerâ€™s disease community as well. These patients have proven essential in understanding and elucidating how Alzheimerâ€™s disease develops in the brain and are involved in testing investigational drugs that target Alzheimerâ€™s disease. Helping this community continue to stay engaged in research will ultimately help the rest of the world affected by Alzheimerâ€™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
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
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
For a list of clinical trials in this disease area, please click here.