Ring chromosome 14 syndrome

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Synonyms: Ring 14 | Ring chromosome 14

A rare chromosomal anomalie characterized by intellectual deficit retinal and skin pigmentation disorders seizures and dysmorphic features including flat occiput epicanthal folds downward slanting eyes flat nasal bridge upturned nostrils short neck and large low set ears.

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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Ring chromosome 14 syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Ring14 USA

Ring14 USA is a non-profit organization dedicated to individuals affected by rare neurodevelopmental disorders on the 14th chromosome, particularly Ring14 Syndrome. We fund critical research, raise awareness, and thoughtfully support families. Ultimately, our mission is to improve the quality of life for these children and those who care for them by providing answers, community, and hope.

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Clinical Trials

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