Microtriplication 11q24.1
Synonyms: Tetrasomy 11q24.1
Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy resulting from a partial triplication of the long arm of chromosome 11 characterized by intellectual disability (with severe verbal impairment) short stature with small extremities keratoconus and distinctive facial features (round course face upward slanting palpebral fissures mild synophris large nose with thick ala nasi and triangular tip large mouth with broad lips short and smooth philtrum large protruded chin ears with adherent lobules). Additionally patients are overweight and present hypercholesterolemia.
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 December 2023
Newly diagnosed with
Microtriplication 11q24.1?
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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
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
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.
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.