Ring chromosome 12 syndrome
Synonyms: Ring 12 | Ring chromosome 12
Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation variable degrees of developmental delay and intellectual disability microcephaly and facial dysmorphism (incl. epicanthal folds low-set cupped ears prominent nose with flat nasal bridge high arched palate micrognathia). Skeletal abnormalities (e.g. pectus excavatum clinodactyly) congenital heart malformations cryptorchidism café-au-lait spots and epilepsy have also been reported.
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 September 2023.
Newly diagnosed with
Ring chromosome 12 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
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.