Ring chromosome 12
Alternate names[edit | edit source]
Chromosome 12 ring; Ring 12; R12
Defintion[edit | edit source]
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.
NIH genetic and rare disease info[edit source]
Ring chromosome 12 is a rare disease.
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