Warburg-Cinotti syndrome

Overview

Type of disease: Rare Condition or Disease

Warburg-Cinotti syndrome (WCS) is a genetic disorder characterized by progressive corneal neovascularization (the in-growth of new blood vessels in the eyes which worsens over time and eventually leads to decrease of vision), keloid formation (the development of smooth, hard growths instead of traditional scar tissue), chronic skin ulcers, wasting of subcutaneous tissue (the innermost layer of skin), flexion contractures of the fingers, and acro-osteolysis (a process by which the ends of one’s fingers or toes are reabsorbed). Other symptoms include sensitivity to light. WCS is often misdiagnosed. Common misdiagnoses include rheumatoid arthritis, Marfan syndrome, Pterygium, Non-Hodgkin lymphoma, chronic fatigue syndrome, juvenile idiopathic arthritis, Ehlers-Danlos, limbal stem cell deficiency, neuroligical sensitization, osteoporosis, scleroderma, cancer (including leukemia), neuropathy and paresthesia, immune-system abnormalities, and adverse reaction to vaccinations and inoculations (including flue vaccine and MMR). There is a 50% chance of a parent with WCS passing the disorder to their child. Otherwise, the disorder can occur as a result of random mutation of the DDR2 gene. Currently, the only way to diagnose WCS is through genetic testing. The test will determine whether the mutation is present in a person’s DDR2 gene. There are only 8 documented cases of WCS.

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