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Blepharonasofacial malformation syndrome

Disease definition

Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.


  • Synonym(s):
    • Pashayan syndrome
    • Pashayan-Prozansky syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or X-linked dominant 
  • Age of onset: Childhood
  • ICD-10: Q87.0
  • OMIM: 110050
  • UMLS: C0796197
  • MeSH: -
  • GARD: 4238
  • MedDRA: -

Detailed information


Additional information

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