Manitoba Oculotrichoanal Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Manitoba Oculotrichoanal Syndrome?
A primary care doctor usually coordinates care. Because the condition affects several body systems, patients also see an ophthalmologist for eye problems, a pediatric surgeon for repairs of the anus or urinary tract, and a geneticist for testing and family planning.
What it is
Manitoba oculotrichoanal syndrome is a very rare genetic condition a person is born with. The name describes the body parts it affects: "oculo" the eyes, "tricho" the hair, and "anal" the opening at the end of the digestive tract. Only a small number of cases have ever been reported.
Symptoms
The main features affect the eyes, hair, and anus. Babies may be born with very small or missing eyes, eyelashes or eyebrows can be sparse or unusual, and the anal opening may be missing, narrowed, or covered. Some children also have differences in the face, urinary tract, or heart.
Causes and who gets it
The syndrome is caused by changes in a gene called FREM1, which helps the body build certain tissues before birth. A baby inherits it by receiving one changed copy from each parent, who are usually healthy carriers.
How doctors diagnose it
Doctors usually suspect the diagnosis soon after birth based on the pattern of eye, hair, and anal features. A genetic test can confirm it, and imaging exams help show which body parts are affected.
Treatment
There is no cure, so treatment focuses on each feature. Surgeons can repair anal and urinary openings, eye doctors can support vision, and other specialists treat heart or facial differences. With early treatment and regular follow-up, many children do well.
When to see a doctor
Any baby born with missing or very small eyes, unusual openings in the body, or a combination of eye, hair, and facial differences should be seen by a doctor right away. Families who already have a child with the syndrome can talk to a genetic counselor about the chance of it happening again.
How a direct primary care or concierge doctor fits in
A direct primary care doctor is paid a flat monthly fee instead of billing insurance per visit, while a concierge doctor works similarly but usually charges more and often works alongside insurance. Such a doctor can manage general health and routine needs, referring to specialists for the rest.
Common questions
Can Manitoba oculotrichoanal syndrome be prevented?
There is no known way to prevent it, since it is caused by gene changes passed down from both parents. Genetic testing and counseling can help couples understand their chances before pregnancy.
Will a child with this syndrome be able to see?
Vision varies a lot depending on how the eyes formed. Some children have very limited vision or none at all, while others have some usable sight. An eye doctor can explain what a specific child is likely to experience.
Is the condition life threatening?
The syndrome itself is not usually described as fatal, but some associated problems, such as heart differences, can be serious. Regular medical care helps manage complications as they come up.
Can adults have a mild form that was never diagnosed?
It is very unlikely, because the eye and anal features are usually obvious at birth. However, milder cases could go unnamed in places without access to genetic testing. Anyone with questions about a possible diagnosis can ask a geneticist.
Sources
- NIH Genetic and Rare Diseases Information Center - Oculotrichoanal syndrome
- MedlinePlus Genetics - Manitoba oculotrichoanal syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
