Bifid nose with or without anorectal and renal anomalies

Definition:

BNAR syndrome is an autosomal recessive condition of nasal anomalies associated with renal and anorectal malformations. Patients have renal agenesis, anorectal malformations ranging from anteriorly placed anus with stenosis to rectal atresia, and overlapping toes. The syndrome is caused by mutations in FREM1 that encodes an extracellular matrix component of basement membranes.

References:

[1]. Anas M Alazami, et al. FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. Am J Hum Genet. 2009 Sep;85(3):414-8. [Content Brief]

[2]. L I Al-Gazali, et al. An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations. Clin Dysmorphol. 2002 Jan;11(1):33-8. [Content Brief]

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