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BNAR syndrome
rareBNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.
- Identifiers
- MONDO:0012165 OMIM:608980Orphanet:217266
- Causal genes
- FREM1
- Part of
- Bifid noseHereditary otorhinolaryngologic diseaseMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- bifid NOSE with or without anorectal and renal anomalies · BNAR
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