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Opitz G/BBB syndrome

Disease definition

Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS) (see these terms).

ORPHA:2745

  • Synonym(s):
    • Hypertelorism-oesophageal abnormality-hypospadias syndrome
    • Hypospadias-dysphagia syndrome
    • Hypospadias-hypertelorism syndrome
    • Opitz syndrome
    • Opitz-Frias syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 145410  300000
  • UMLS: C1801950  C2936904
  • MeSH: -
  • GARD: 193
  • MedDRA: -

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