Xq12-q13.3 duplication syndrome

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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 June 2024

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Xq12-q13.3 duplication syndrome?

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Advocacy Organizations

Helping Swans Co.

Promoting disability awareness and inclusion through education and support services. They highlight rare and undiagnosed diseases and provide initiatives in schools, hospitals, and other organizations to create a more inclusive world. The organization was founded by a disabled Latina mother of a rare child with autism, with a focus on diversity and underrepresented communities.

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.

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.

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Clinical Trials

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