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.
Comprehensive, easy-to-understand information about this condition
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Neu-Laxova syndrome
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acrofacial dysostosis, Catania type
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aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
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brachydactyly-nystagmus-cerebellar ataxia syndrome
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craniofaciofrontodigital syndrome
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uveal coloboma-cleft lip and palate-intellectual disability
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