Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Manitoba oculotrichoanal syndrome

MOTA syndrome is an autosomal recessive dysmorphic eye syndrome caused by mutations of the FREM1 gene. It is characterized by multiple malformations of the eye and an aberrant hairline.

Systematic

Hereditary ocular disease and visual impairment
Aplasia of lacrimal and salivary glands
Fish-eye disease
Hereditary glaucoma
IVIC syndrome
Knobloch syndrome 1
Lacrimoauriculodentodigital syndrome
Ligneous conjunctivitis
Macular degeneration
Manitoba oculotrichoanal syndrome
FREM1
Papillorenal syndrome
Retinitis pigmentosa
Syndromic microphthalmia 6
Usher syndrome

References:

1.

Slavotinek A et. al. (2006) Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.

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2.

None (2001) Micro-ablepharon of the upper eyelids and vaginal atresia.

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3.

Li C et. al. (2007) Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.

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4.

Slavotinek AM et. al. (2011) Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

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5.

None (1976) Anatomical classification facial, cranio-facial and latero-facial clefts.

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6.

Marles SL et. al. (1992) New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians.

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7.

Yeung A et. al. (2009) Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome.

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Update: Sept. 26, 2018