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Women with Marfan syndrome, then, should receive a thorough assessment prior to conception, and echocardiography should be performed every six to 10 weeks during pregnancy, to assess the aortic root diameter. For most women, safe vaginal delivery is possible.
Elizabeth Anne Velásquez (/ ˈ l ɪ z i v ə ˈ l æ s k ɛ z /; born March 13, 1989) is an American motivational speaker, activist, writer, and YouTuber.She was born with an extremely rare congenital disease called Marfanoid–progeroid–lipodystrophy syndrome that, among other symptoms, prevents her from accumulating body fat and gaining weight.
Individuals who have or had Marfan syndrome. Pages in category "People with Marfan syndrome" The following 23 pages are in this category, out of 23 total.
Dural ectasia can be asymptomatic, in which case no intervention is necessary. However, it is associated with chronic pain in patients with Marfan syndrome, suggesting it is a structural risk factor. [20] There is no medical consensus on how to manage symptomatic (painful) dural ectasia.
This feature can occur on its own with no underlying health problems, or it can be associated with certain medical conditions, including Marfan syndrome, [1] Ehlers–Danlos syndromes, [2] Loeys–Dietz syndrome, and homocystinuria. [3]
Many result in anomalies of the skeleton and joints, which can substantially impair normal growth and development. In contrast to acquired connective tissue diseases, these conditions are uncommon. [1] Marfan syndrome - inherited as an autosomal dominant characteristic, due to mutations in the FBN1 gene that encodes fibrillin 1. [3]
Dolichonychia is a medical condition in which the nail beds of the fingers and toes are abnormally long and slender, specifically, a finger nail index of 1.30 or more, [1] it is a common feature in people with connective tissue disorders, such as Ehlers–Danlos syndromes, Marfan syndrome, and hypohidrotic ectodermal dysplasia., [2] it often appears alongside arachnodactyly and/or ...
Marfan syndrome: 1 in 4,000 [14] Huntington's disease: 1 in 15,000 [15] Autosomal recessive Sickle cell anaemia: 1 in 625 [16] Cystic fibrosis: 1 in 2,000 Tay–Sachs disease: 1 in 3,000 Phenylketonuria: 1 in 12,000 Autosomal recessive polycystic kidney disease: 1 in 20,000 [17] Mucopolysaccharidoses: 1 in 25,000 Lysosomal acid lipase ...