Winchester syndrome is a rare hereditary connective tissue disease described in 1969. Its main features are short stature, marked joint contractures, corneal opacities, coarse facial features, dissolution of the carpal and tarsal bones in the hands and feet, and osteoporosis. It was once thought to be related to multicentric osteolysis, nodulosis and arthropathy (MONA), but the two were found to be caused by mutations in different genes even though the clinical picture is much the same. The appearance resembles rheumatoid arthritis. Cultured skin fibroblasts show increased uronic acid, and the disease was regarded as a mucopolysaccharidosis even though early tests showed no increased mucopolysaccharide excretion. It is thought to be inherited as an autosomal recessive trait. This is a record of what the source states, not medical advice.
Facts
Classification
Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Sources
1. Winchester syndrome (Wikipedia)
Wikipedia article lead
rare hereditary connective tissue disease described in 1969
Wikipedia article lead [body-system]
dissolution of the carpal and tarsal bones (in the hands and feet, respectively), and osteoporosis
Wikipedia article lead [body-system 2]
opacities in the cornea
Wikipedia article lead [causative-agent-category]
Winchester syndrome is thought to be inherited as an autosomal recessive trait.
Wikipedia article lead [disease-category]
Winchester syndrome is a rare hereditary connective tissue disease
View the SourceReader Challenges (0)
No disputes yet. Spotted an error or a better source? Open the first one.
Sign in to dispute this or suggest a correction.