Ring chromosome 18 syndrome

What is Ring chromosome 18 syndrome?

Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.

Other condition names

  • Ring 18
  • Ring chromosome 18


  • Worldwide: <1 in 1,000 000

Age of Onset

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