Ring chromosome 19

Alternate names

Chromosome 19 ring; Ring 19; R19

Definition

A rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (especially speech) and mild dysmorphism (including micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (for example hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia and talipes equinovarus have also been reported.

NIH genetic and rare disease info

• NIH info on Ring chromosome 19

Ring chromosome 19 is a rare disease.

Resources

Frequently asked questions

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