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What was arthrochalasia type EDS called?
Arthrochalasia type EDS is now referred to as classic type EDS. It is a rare genetic disorder that affects the connective tissues in the body, resulting in joint hypermobility, skin hyperextensibility, and tissue fragility.
Can you provide information on the prevalence and impact of Ehlers-Danlos syndrome (EDS) in the general population?
Ehlers-Danlos syndrome (EDS) is a group of genetic connective tissue disorders that affect the body's ability to produce collagen. It is estimated to affect about 1 in 5,000 people worldwide. EDS can cause a range of symptoms including joint hypermobility, skin hyperextensibility, and tissue fragility. The impact of EDS can vary from mild to severe, affecting a person's quality of life and daily functioning. Early diagnosis and management by healthcare professionals are important in improving outcomes for individuals with EDS.
Does marfan syndrome affect the aorta?
Yes. Marfan syndrome is a congenital disorder affecting the formation of fibrillin. In Marfan syndrome, the abnormal fibrillin is responsible for many of the findings of the disease. Hyperextensibility/hyperelasticity of joints is one of the hallmark signs. Pectus excavatum is another. People with Marfan syndrome are typically very tall and thin, with very long fingers and toes (arachnodactyly). The fibrillin defect also affects the blood vessels, especially the large arteries, such as the aorta. Disordered fibrillin production causes these arteries to be weaker than normal, predisposing patients with Marfan syndrome to aortic dissections and rupture. This the major cause of death for patients with Marfan syndrome.
