Congenital contractural arachnodactyly
Congenital contractural arachnodactyly (CCA), also known as Beals-Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. However, Beals and Hecht discovered in 1972 that, unlike Marfan's, CCA is caused by mutations to the fibrillin-2 (FBN2) gene rather than the fibrillin-1 (FBN1) gene.
| Congenital contractural arachnodactyly | |
|---|---|
| Other names | Beals syndrome; Beals–Hecht syndrome; Arachnodactyly, contractural Beals type; multiple with arachnodactyly; Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis; Distal arthrogryposis type 9 |
| Symptoms | Tall, slender body; arm span exceeds height; long, slender fingers and toes; kyphoscoliosis; crumpled ear; joint stiffness |
| Usual onset | Conception |
| Causes | Mutation of FBN2 gene |
| Treatment | Physical therapy for joint contractures; bracing and/or surgical correction for kyphoscoliosis |
| Prognosis | Life expectancy depends on severity of symptoms but typically it is not shortened |
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