Living with Tukel syndrome
A rare condition present at birth with limited eye movement, droopy eyelids, and missing or joined fingers.
Understanding Tukel syndrome
These conditions cause lifelong weakness of the eye muscles, making it hard to move the eyes up, down, or side to side, and often cause droopy upper eyelids. People often hold their head in an unusual position and turn the head instead of the eyes. In Tukel syndrome, people also have fewer fingers than usual or partly joined fingers on the side away from the thumb.
Signs & symptoms
GARD doesn't list a separate symptom list. The summary describes these features:
- Limited eye movement
- Droopy upper eyelids
- Head held in an unusual position
- Fewer fingers than usual
- Partly joined fingers
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
GARD says this condition is autosomal recessive, so a child inherits a changed copy of a gene from each parent. It doesn't name a specific gene.
Also known as: cfeom-u; fibrosis of extraocular muscles, congenital, 4; fibrosis of extraocular muscles, congenital, with ulnar hand anomalies
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 Tukel syndrome.
Explore research for Tukel syndrome
Explore actively recruiting Tukel syndrome studies with HealthSpark.
Find actively recruiting studies for Tukel syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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