Homozygous recessive mutations in FREM1 have been identified recently in two rare conditions: BNAR syndrome which is characterized by bifid nose, anorectal malformations and renal agenesis (OMIM 608980) [15] and; Manitoba-Oculo-Tricho-Anal (MOTA) syndrome (OMIM 248450), which is characterized by a bifid or broad nasal tip, eye colobomas, cryptophthalmos and anophthalmia/microphthalmia, aberrant hairline and anal stenosis [16]. The gene discussed is FREM1; the disease is BNAR syndrome.