Marfan syndrome (Q46717): Difference between revisions
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Síndrome de Marfan é uma doença sistêmica do tecido conjuntivo caracterizada por uma combinação variável de manifestações cardiovasculares, musculoesqueléticas, oftálmicas e pulmonares. O envolvimento cardiovascular é caracterizado por 1) dilatação progressiva da aorta acompanhada por um risco aumentado de dissecção aórtica, que afeta o prognóstico e 2) insuficiência mitral. O envolvimento esquelético frequentemente é o primeiro sinal da doença e pode incluir dolicostenomelia, tamanho grande, aracnodactilia, hipermobilidade articular, deformações escolióticas, protrusão do acetábulo, deformidade torácica, dolicocefalia do eixo ântero-posterior, micrognatismo ou hipoplasia malar. O envolvimento oftálmico resulta em miopia axial, que pode levar a descolamento da retina e a deslocamento do cristalino. | |||
| description / en | description / en | ||
Marfan syndrome is a systemic disease of connective tissue characterised by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations. Cardiovascular involvement is characterised by 1) progressive dilation of the aorta accompanied by an increased risk of aortic dissection, which affects prognosis and 2) mitral insufficiency. Skeletal involvement is often the first sign of the disease and can include dolichostenomelia, large size, arachnodactyly, joint hypermobility, scoliotic deformations, acetabulum protrusion, thoracic deformity, dolichocephaly of the anteroposterior axis, micrognathism or malar hypoplasia. Ophthalmic involvement results in axile myopia, which can lead to retinal detachment and lens displacement. | |||
Revision as of 15:30, 13 August 2026
Marfan syndrome is a systemic disease of connective tissue characterised by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations. Cardiovascular involvement is characterised by 1) progressive dilation of the aorta accompanied by an increased risk of aortic dissection, which affects prognosis and 2) mitral insufficiency. Skeletal involvement is often the first sign of the disease and can include dolichostenomelia, large size, arachnodactyly, joint hypermobility, scoliotic deformations, acetabulum protrusion, thoracic deformity, dolichocephaly of the anteroposterior axis, micrognathism or malar hypoplasia. Ophthalmic involvement results in axile myopia, which can lead to retinal detachment and lens displacement.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD28.01 |
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| English | Marfan syndrome |
Marfan syndrome is a systemic disease of connective tissue characterised by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations. Cardiovascular involvement is characterised by 1) progressive dilation of the aorta accompanied by an increased risk of aortic dissection, which affects prognosis and 2) mitral insufficiency. Skeletal involvement is often the first sign of the disease and can include dolichostenomelia, large size, arachnodactyly, joint hypermobility, scoliotic deformations, acetabulum protrusion, thoracic deformity, dolichocephaly of the anteroposterior axis, micrognathism or malar hypoplasia. Ophthalmic involvement results in axile myopia, which can lead to retinal detachment and lens displacement. |
