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BNAR syndrome

Disease definition

BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (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, see these terms) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms).

ORPHA:217266

  • Synonym(s):
    • Bifid nose with or without anorectal and renal anomalies
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: 608980
  • UMLS: C2750433
  • MeSH: -
  • GARD: 10595
  • MedDRA: -

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