Ring chromosome 17 syndrome
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 2024
Newly diagnosed with
Ring chromosome 17 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
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.
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.