Ring chromosome 22 syndrome
Synonyms: Ring 22 | Ring chromosome 22 | r(22) syndrome
Ring chromosome 22 syndrome is an autosomal anomaly characterized by variable clinical features most commonly including global developmental delay hypotonia growth retardation with microcephaly intellectual disability with severe speech delay seizures or abnormal EEG autistic spectrum disorder and other behavioral characteristics.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Ring chromosome 22 syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
For a list of clinical trials in this disease area, please click here.