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Branchio-oculo-facial syndrome

Disease definition

Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.


Classification level: Disorder
  • Synonym(s):
    • BOFS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or No data available 
  • Age of onset: Neonatal
  • ICD-10: Q18.8
  • OMIM: 113620
  • UMLS: C0376524
  • MeSH: -
  • GARD: 3212
  • MedDRA: -

Detailed information

Article for general public


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