Clinical Guidance

Manitoba Oculotrichoanal (MOTA) Syndrome

Ocular abnormalities include ipsilateral colobomas of the upper eyelid (sometimes referred to as a Tessier number 10 cleft), corneopalpebral synechiae (i.e., adhesions between the eyelids and the cornea, also known as abortive cryptophthalmos), and microphthalmia/anophthalmia and/or cryptophthalmos. Anomalies may be unilateral or bilateral; the severity may differ between the two eyes. Visual impairment may result directly from the ocular malformations or indirectly from exposure keratopathy. The long-term visual outcome depends on the severity of the ocular malformations and is poor for individuals with bilateral complete cryptophthalmos. In those with milder ocular malformations, such as upper eyelid colobomas, vision is typically intact.

Diagnostic Criteria

No consensus clinical diagnostic criteria for FREM1 autosomal recessive disorders have been published.

Suggestive Findings

A FREM1 autosomal recessive disorder should be suspected in an individual with clinical findings and/or family history of Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR) syndrome, or congenital anomalies of kidney and urinary tract (CAKUT).

MOTA syndrome

Source: GeneReviews — "FREM1 Autosomal Recessive Disorders"

Management Guidelines

No clinical practice guidelines for FREM1 autosomal recessive disorders have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with a FREM1 autosomal recessive disorder, the evaluations summarized in , , or (depending on the phenotype), if not performed as part of the evaluation that led to the diagnosis, are recommended.

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 7.

FREM1 Autosomal Recessive Disorders: Recommended Surveillance

System/Concern | Evaluation | Frequency

Kidney malformations