What is Manitoba Oculotrichoanal syndrome (MOTA)?
Manitoba Oculotrichoanal syndrome is a rare condition characterized by multiple congenital anomalies, most commonly affecting the nose, eyes, gastrointestinal system, and genitourinary system.
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.
This syndrome is also known as:
Manitoba oculo-tricho-anal syndrome; Marles Syndrome; MOTA syndrome; Oculotrichoanal syndrome
What gene change causes 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.
Key facial characteristics of the syndrome include widely spaced eyes, small eyes, partially absent upper eyelids, eyelids fused to the front surface of the eye, malformed eyes, and eyes covered by skin. One or both eyes can 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.
Possible clinical traits/features:
Anophthalmia, Ectopic anus, Nasolacrimal duct obstruction, Microphthalmia, Midline defect of the nose, Abnormality of the palpebral fissures, Eyelid coloboma, Lacrimation abnormality, Abnormal hair morphology, Anteriorly placed anus, Anal stenosis, Aplasia/Hypoplasia affecting the eye, Autosomal recessive inheritance, Omphalocele, Hypertelorism.
How is it diagnosed?
To find out if someone has a diagnosis of Manitoba Oculotrichoanal syndrome (MOTA), it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
