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Opitz GBBB syndrome

What is Opitz GBBB syndrome?

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).

Other condition names

  • Hypertelorism-oesophageal abnormality-hypospadias syndrome
  • Hypospadias-dysphagia syndrome
  • Hypospadias-hypertelorism syndrome
  • Opitz syndrome
  • Opitz-Frias syndrome

Inheritance type

Autosomal dominant, X-linked recessive

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.