Overview
Dermochondrocorneal dystrophy, also known as François syndrome, is a very rare inherited condition that affects three main parts of the body: the skin, the cartilage (the firm but flexible tissue in joints and ears), and the corneas (the clear front surface of the eyes). The disease was first described by the Belgian ophthalmologist Jules François in the 1940s, and only a small number of cases have ever been reported worldwide. The condition typically begins in early childhood. Children may develop small firm bumps under the skin, especially on the hands, feet, and ears. The cartilage in the ears and nose can become thickened or misshapen over time. The corneas of the eyes gradually develop clouding, which can lead to reduced vision if not treated. Because this disease is so rare, treatment is mostly focused on managing individual symptoms. Eye problems may be helped with corneal transplant surgery. Skin and cartilage changes are usually monitored by specialists. There is currently no cure, and care is provided by a team of doctors including eye specialists, skin doctors, and geneticists. Early diagnosis is important so that vision can be protected and other complications can be managed as they arise.
Also known as:
Key symptoms:
Small firm bumps (nodules) under the skin, especially on the hands, feet, and earsThickening or deformity of ear cartilageClouding of the cornea (the clear front part of the eye)Gradual loss of vision due to corneal changesThickening of the skin in affected areasMisshapen or enlarged nose cartilageJoint stiffness in some casesSensitivity to light due to eye involvement
Clinical phenotype terms (7)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Dermochondrocorneal dystrophy.
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Specialists
View all specialists →No specialists are currently listed for Dermochondrocorneal dystrophy.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Dermochondrocorneal dystrophy.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specialists should be part of my care team, and how often should I see each one?,Should I have genetic testing, and what type would be most useful for my family?,How quickly might my vision change, and when would a corneal transplant be recommended?,Are there any clinical trials or research studies I could participate in?,What signs should prompt me to seek urgent medical attention?,How will this condition affect my child's schooling and daily activities?,Are other family members at risk, and should they be tested?
Common questions about Dermochondrocorneal dystrophy
What is Dermochondrocorneal dystrophy?
Dermochondrocorneal dystrophy, also known as François syndrome, is a very rare inherited condition that affects three main parts of the body: the skin, the cartilage (the firm but flexible tissue in joints and ears), and the corneas (the clear front surface of the eyes). The disease was first described by the Belgian ophthalmologist Jules François in the 1940s, and only a small number of cases have ever been reported worldwide. The condition typically begins in early childhood. Children may develop small firm bumps under the skin, especially on the hands, feet, and ears. The cartilage in the
How is Dermochondrocorneal dystrophy inherited?
Dermochondrocorneal dystrophy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Dermochondrocorneal dystrophy typically begin?
Typical onset of Dermochondrocorneal dystrophy is childhood. Age of onset can vary across affected individuals.