Overview
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome is a very rare inherited condition that affects multiple parts of the body. It is named after its three main features: keloid scars (thick, raised, overgrown scars that form after skin injury), reduced joint mobility (stiff joints that do not move through their full range), and an increased optic cup-to-disc ratio (a change in the structure of the back of the eye that can be a sign of raised pressure in the eye or glaucoma risk). Because it is X-linked, the gene responsible sits on the X chromosome, which means the pattern of who is affected and how severely can differ between males and females. This condition is extremely rare and was only recently described and catalogued in medical databases. Because so few cases have been reported, doctors and researchers are still learning about the full range of symptoms, how the disease progresses over time, and the best ways to manage it. People living with this syndrome may need care from several different specialists to address the skin, joint, and eye problems it causes. At this time, treatment focuses on managing individual symptoms rather than targeting the underlying cause, as no cure currently exists. Early recognition of the signs — especially unusual scarring, joint stiffness, and eye changes — is important so that monitoring and supportive care can begin as soon as possible.
Key symptoms:
Keloid scars — thick, raised, rubbery scars that grow beyond the original woundStiff joints that do not bend or straighten fullyIncreased optic cup-to-disc ratio seen on eye examination (a structural eye change)Possible increased risk of glaucoma or raised eye pressureSkin that forms abnormal scars even after minor injuriesLimited range of motion in one or more jointsPossible eye discomfort or vision changes related to eye pressure
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome.
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Specialists
View all specialists →No specialists are currently listed for X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome.
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 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome.
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.Which gene is responsible for this condition in my family, and what genetic testing do you recommend?,How often should I have my eyes checked, and what signs of glaucoma should I watch for?,What is the best way to prevent or treat keloid scars, especially after any future injuries or surgeries?,What physiotherapy or exercises can help keep my joints as flexible as possible?,Are there any clinical trials or research studies I could join?,Should other family members be tested, and how does the X-linked pattern affect my children or siblings?,Who else should be on my care team, and how do I coordinate between different specialists?
Common questions about X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
What is X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome?
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome is a very rare inherited condition that affects multiple parts of the body. It is named after its three main features: keloid scars (thick, raised, overgrown scars that form after skin injury), reduced joint mobility (stiff joints that do not move through their full range), and an increased optic cup-to-disc ratio (a change in the structure of the back of the eye that can be a sign of raised pressure in the eye or glaucoma risk). Because it is X-linked, the gene responsible sits on the X chromosome, whic
How is X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome inherited?
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.