Manitoba Oculotrichoanal syndrome (MOTA)

What is Manitoba Oculotrichoanal syndrome (MOTA)?

This rare disease is a multiple congenital anomalies syndrome. The most common anomalies relate to the nose, eyes, gastrointestinal and genitourinary.

Syndromes vary between affected individuals but generally relate to the eyes, hair and anus.

The syndrome has been mainly diagnosed in the residents of a very isolated community in northern Manitoba, Canada. There are a few cases that have been diagnosed outside of this remote community.

What gene changes cause Manitoba Oculotrichoanal syndrome (MOTA)?

Mutations in the FREM1 gene are responsible for the syndrome. It is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Manitoba Oculotrichoanal syndrome (MOTA)?

The main symptoms of the syndrome may vary greatly between individuals.

The main facial features of the syndrome include widely spaced eyes, small eyes and an upper eyelid that may be partially absent, eyelids attached to the front surface of the eye, malformed eyes and eyes covered by skin. One, or both eyes may be affected.

Symptoms or features involving the hair usually relate to the front hairline. Missing eyebrows is another feature. As is a wide nose with an abnormal tip. In severe cases this anomaly makes the nose appear as if it is divided in two.

For some individuals anomalies in the abdominal wall are common, including an umbilical hernia or opening in the wall of the abdomen. Individuals may also have a narrow anus or an anal opening positioned further back.

How does someone get tested for Manitoba Oculotrichoanal syndrome (MOTA)?

The initial testing for Manitoba Oculotrichoanal syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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