Manitoba oculotrichoanal syndrome

Definition:

Manitoba oculotrichoanal (MOTA) syndrome is a rare condition characterized by aberrant anterior hairline, upper-eyelid colobomas, hypertelorism, cryptophthalmos, a bifid or notched nose, and anal anomalies. MOTA syndrome is inherited in an autosomal recessive manner.

References:

[1]. Anne M Slavotinek, et al. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet. 2011 Jun;48(6):375-82. [Content Brief]

[2]. Chumei Li, et al. Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. Am J Med Genet A. 2007 Apr 15;143A(8):853-7. [Content Brief]

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