Congenital contractural arachnodactyly (Q46716): Difference between revisions
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Aracnodactilia contratural congênita (ACC, síndrome de Beals) é um transtorno do tecido conjuntivo caracterizado por múltiplas contraturas em flexão, aracnodactilia, cifoescoliose grave, pavilhão auricular anormal e hipoplasia muscular. Embora as características clínicas possam ser semelhantes à síndrome de Marfan (SMF), múltiplas contraturas articulares (especialmente de articulações de cotovelo, joelho e dedos) e orelhas dobradas na ausência de dilatação significativa da raiz da aorta são características da síndrome de Beals e raramente encontradas em SMF. | |||
| description / en | description / en | ||
Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterised by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially of the elbow, knee, and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in MFS. | |||
Revision as of 15:30, 13 August 2026
Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterised by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially of the elbow, knee, and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in MFS.
| Language | Label | Description | Also known as |
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| default for all languages | LD28.00 |
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| English | Congenital contractural arachnodactyly |
Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterised by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially of the elbow, knee, and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in MFS. |
