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 October 2023.
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
Ring14 USA
In our effort to improve the quality of life for those affected by the rare neurodevelopmental disorders of the 14th chromosome, such as Ring14 Syndrome, Ring14 USA commits to promoting and funding critical research, raising awareness of these rare disorders, and providing thoughtful support to this community.
Ring14 USA
In our effort to improve the quality of life for those affected by the rare neurodevelopmental disorders of the 14th chromosome, such as Ring14 Syndrome, Ring14 USA commits to promoting and funding critical research, raising awareness of these rare disorders, and providing thoughtful support to this community.
Genetic Epilepsy Team Australia
Collaboration of research and care
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.
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.