Living with Francois syndrome
A very rare inherited condition (dermochondrocorneal dystrophy) affecting the bones of hands and feet, the cornea, and skin nodules.
Understanding Francois syndrome
It involves bone and cartilage changes in the hands and feet, clouding of the cornea (corneal dystrophy), and skin nodules around the finger joints, nose, ears, and elbows. Gum lesions may also be present. It has been described in fewer than 20 people and usually starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone and cartilage changes in the hands and feet
- Clouding of the cornea (corneal dystrophy)
- Reduced clarity of vision
- Large hands
- Yellow fatty bumps on the skin (xanthomas)
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, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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 genes cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD doesn't name a gene.
Also known as: dermochondrocorneal dystrophy; dermochondrocorneal dystrophy of françois; franc'ois syndrome; françois syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Francois syndrome.
Explore research for Francois syndrome
Explore actively recruiting Francois syndrome studies with HealthSpark.
Find actively recruiting studies for Francois 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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