Blepharonasofacial malformation syndrome

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Synonyms: Pashayan syndrome | Pashayan-Pruzansky 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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Blepharonasofacial malformation syndrome?

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