MIM 248 450]

(Marles syndrome)

Acronym for Manitoba Oculo Tricho Anal syndrome). Extremely rare. Autosomal recessive transmission of mutations of the FREM1 gene on 9p22.3. This syndrome was originally described in Ojibway - Cree tribes of Manitoba, where there is strong inbreeding, hence its name.

Variable association of:

-        anophthalmia/microphthalmia or cryptophtalmia

-        coloboma of the upper eyelid (sometimes absence of eyebrow) often associated with a particular, ipsilateral hair implantation which extends down the forehead and temple

-        a broad or bifid nose

-        digestive anomalies like omphalocele or anal stenosis.

Anesthetic implications:

eye protection

References:

-         Li C, Marles SL, Greenberg CR, Chordiker BN, Van de Kamp J et al. 
Manitoba Oculotrichoanal  (MOTA) syndrome : report of eight new cases. 
Am J Med Genet Part A 2007;143A: 853-7.  

-        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: December 2023