Orphanet: Ring chromosome 18 syndrome

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Ring chromosome 18 syndrome

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Ring 18
    • Ring chromosome 18
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal, Antenatal
  • ICD-10: Q93.2
  • OMIM: -
  • UMLS: C0265475  C2931809
  • MeSH: C538304
  • GARD: 6077
  • MedDRA: -
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