Living with Oculotrichoanal syndrome
A genetic condition (Manitoba type) with eye, hair, and anal differences, such as widely spaced eyes and a narrow anus.
Understanding Oculotrichoanal syndrome
People have widely spaced eyes and may have small eyes, a notched upper eyelid, or eyes covered by skin. Hair may grow from the temple toward the eye, and eyebrows may be missing. The nose is often wide with a notched tip. About 20 percent have abdominal wall defects like an umbilical hernia. A narrow anus and kidney differences can occur. Severity varies, even in one family. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Widely spaced eyes (hypertelorism)
- Notched upper eyelid (coloboma)
- Differences in the hairline
- Narrow anus (anal stenosis) or anus placed farther forward
- Blocked tear duct
- Wide nose with a notched tip
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in FREM1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FREM1 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: manitoba oculotrichoanal syndrome; marles syndrome; marles-greenberg-persaud syndrome; marles-greenburg-persaud syndrome; mota; mota - manitoba oculotrichoanal syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Oculotrichoanal syndrome.
Explore research for Oculotrichoanal syndrome
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