Xq12-q13.3 duplication syndrome
Synonyms: Dup(X)(q12-q13.3) | Kaya-Prontera syndrome
Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome X characterized by global developmental delay autistic behavior microcephaly and facial dysmorphism (including down-slanting palpebral fissures depressed nasal bridge anteverted nares long philtrum down-slanting corners of the mouth). Seizures have also been reported in some patients.
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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Xq12-q13.3 duplication syndrome?
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Advocacy Organizations
TRND Network
The TRND Network is dedicated to supporting patients and their loved ones by providing advocacy and support, advancing research, and creating collaboration between researchers and patients.
TRND Network
The TRND Network is dedicated to supporting patients and their loved ones by providing advocacy and support, advancing research, and creating collaboration between researchers and patients.
MAST Genes Research Foundation
Connecting families and fueling research into microtubule-associated serine/threonine kinase (MAST) genetic mutations to improve the quality of life and develop therapies to support affected patients and families.
SCN2A Foundation
The SCN2A Foundation is a global initiative dedicated towards accelerating research and treatment for SCN2A. We plan to achieve this by building collaborative networks among the global research community, organizing resources, and strategically investing in highly focused research directed towards therapeutic development.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.