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Opitz GBBB syndrome

Disease definition

A rare X-linked congenital midline malformation syndrome characterized by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias.

ORPHA:2745

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

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.