BNAR syndrome is an autosomal recessive disorder caused by mutations of the FREM1 gene. It characterize by various malfomations such as bifid nose and anorectal and renal anomalies.
The prevalence is estimated of less than 1 per 1,000,000 life birth.
Al-Gazali LI et al. (2002) An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations.[^]
Alazami AM et al. (2009) FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.[^]
Slavotinek AM et al. (2011) Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.[^]
OMIM.ORG articleOmim 608980 [^]
Orphanet articleOrphanet ID 217266 [^]