Ring chromosome 22 syndrome

What is Ring chromosome 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.

Other condition names

  • Ring 22
  • Ring chromosome 22
  • r(22) syndrome


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.