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Blepharonasofacial malformation syndrome

What is Blepharonasofacial malformation syndrome?

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.

Other condition names

  • Pashayan syndrome
  • Pashayan-Pruzansky syndrome

Inheritance type

Autosomal dominant, X-linked dominant

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.