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Oculotrichoanal syndrome

Synonyms
Manitoba Oculotrichoanal Syndrome; Manitoba Trichoanal syndrome; Marles Greenberg Persaud syndrome; Marles syndrome; Unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: FREM1 Autosomal Recessive Disorders
FREM1 autosomal recessive disorders include Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR syndrome), and isolated congenital anomalies of kidney and urinary tract (CAKUT). MOTA syndrome is characterized by an aberrant hairline (unilateral or bilateral wedge-shaped extension of the anterior hairline from the temple region to the ipsilateral eye) and anomalies of the eyes (widely spaced eyes, anophthalmia/microphthalmia and/or cryptophthalmos, colobomas of the upper eyelid, and corneopalpebral synechiae), nose (bifid or broad nasal tip), abdominal wall (omphalocele or umbilical hernia), and anus (stenosis and/or anterior displacement of the anal opening). The manifestations and degree of severity vary even among affected members of the same family. Growth and psychomotor development are normal. BNAR syndrome is characterized by a bifid or wide nasal tip, anorectal anomalies, and renal malformations (e.g., renal agenesis, renal dysplasia). Typically the eye manifestations of MOTA syndrome are absent. FREM1-CAKUT was identified in one individual with bilateral vesicoureteral reflux (VUR) and a second individual with VUR and renal hypodysplasia.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Chumei Li
Anne Slavotinek
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Available tests

36 tests are in the database for this condition.

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Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BNAR, C9orf143, C9orf145, C9orf154, MOTA, TILRR, TRIGNO2, FREM1
    Summary: FRAS1 related extracellular matrix 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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