Living with X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
A rare X-linked condition with stiff finger and neck joints, raised scars (keloids), an eye finding, and kidney stones.
Understanding X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
It also has an increased optic cup-to-disc ratio, an eye measure often checked for glaucoma. Arthritis, thin bones, anxiety, and distinct facial features have also been reported. Female carriers have milder signs. It can begin at a variety of ages.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these:
- Stiff finger joints from birth
- Stiffening of the shoulders and neck
- Keloid scarring
- Kidney stones
- Increased optic cup-to-disc ratio
- Arthritis and thin bones
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.
- 3Consider genetic testing
Changes in FLNA 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); 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
This condition is caused by changes in the FLNA gene and follows X-linked inheritance.
Also known as: x-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio 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 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome.
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