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 April 2024
Newly diagnosed with
Ring chromosome 12 syndrome?
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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
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