BNAR syndrome

[MIM 608 980]

Extremely rare. Acronym of Bifid Nose with/without Anorectal and Renal anomalies.

Autosomal recessive transmission of mutations of the FREM1 gene (9p22.3); other mutations of this gene produce the MOTA syndrome (see this term).


Variable association of:


-         a broad or bifid nose

-         anorectal anomalies: from simple anal anteposition to high imperforate anus with fistula

-         kidney abnormalities: uni or bilateral kidney agenesis (bilateral is lethal)


Anesthetic implications: 

monitor renal function; avoid nasal intubation ?


References:

-        Berradaa S, Tazziteb A, Bouzrouda W, Gazzaz B, Lehlimid M, Dehbia H.
Novel FREM1 homozygous variant in an individual with an intermediate phenotype between Bifid Nose with or without Anorectal and Renal Anomalies and Manitoba-oculo-tricho-anal Syndromes.
Clinical Dysmorphology 2023 ; 32:36-8


Updated: November 2023