Ring chromosome 14 syndrome
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 May 2024
Newly diagnosed with
Ring chromosome 14 syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
Genetic Epilepsy Team Australia
Collaboration of research and care
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
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
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.
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.