Synonyms: Ring 17 | Ring chromosome 17
A rare chromosomal anomaly characterized by highly variable manifestations ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature microcephaly intellectual disability seizures (that may be pharmacoresistant) café-au-lait spots retinal flecks and minor facial dysmorphism depending on the presence or absence of the Miller-Dieker critical region.
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 April 2026
Newly diagnosed with
Ring chromosome 17 syndrome?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
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Clinical Trials
For a list of clinical trials in this disease area, please click here.