Marfan Syndrome

What is Marfan Syndrome? Marfan’s syndrome (arachnodactyly, partial gigantism, mesodermal dystrophy) is a hereditary autosomal dominant disease. The symptom complex includes malformations of the skeleton, soft tissues, ecto and endodermal abnormalities due to dysfunction of

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Recurrent Polychondritis

What is Recurrent Polychondritis? Recurrent polychondritis (panchondritis, systemic chondromalacia, chronic atrophic polychondritis, etc.) is a generalized progressive inflammatory disease of the cartilage tissue involving the sensory organs (eyes, ears, vestibular apparatus), leading to structural changes

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Periodic Disease

What is a Periodic Disease? Periodic disease (familial Mediterranean fever, benign familial paroxysmal peritonitis, Armenian disease, etc.) is a hereditary disease of an autosomal recessive type with complete gene penetrance. The disease is described mainly

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