Details of Disease

General Information of Disease (ID: DIS1Q3HK)

• Disease Name: Opitz G/BBB syndrome
• Synonyms: hypertelorism with esophageal abnormality and hypospadias; BBB syndrome; telecanthus with associated abnormalities; Opitz BBBG syndrome; hypospadias-dysphagia, syndrome; hypertelorism hypospadias syndrome; G syndrome; Opitz-G syndrome, type 2; GBBB syndrome; Opitz-GBBB syndrome; hypertelorism-oesophageal abnormality-hypospadias syndrome; Opitz G syndrome; Opitz GBBB syndrome; Opitz G/BBB syndrome; hypospadias-hypertelorism syndrome; hypospadias-dysphagia syndrome; Opitz syndrome; Opitz-Frias syndrome
• 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).
• Disease Hierarchy:
  DISKPIOJ: Telecanthus
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DIS1Q3HK: Opitz G/BBB syndrome