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Beal's syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Beal's Syndrome is also known as congenital contractural arachnodactyly.

Its features include arthrogrypotic finger contractures, a long, thin body habitus and ear deformities. It is autosomal dominant.

It is one differential of Marfan's Syndrome but unlike the latter, there are no ocular or cardiovascular abnormalities.

Has extremely low morbidity compared with Marfan syndrome

  • Congenital Contractural Arachnodactyly (CCA) and Marfan's syndrome have many common clinical traits
    • including the so-called Marfanoid appearance, constituted by a tall, slender, asthenic appearance and skeletal features including arachnodactyly, dolichostenomelia, pectus deformities, and kyphoscoliosis
    • however most patients with CCA have muscular hypoplasia,“crumpled” ears and flexion contractures

Mutations in FBN2 (which encodes fibrillin-2) are responsible for causing this disease.

Reference:

  • Lavillaureix A et al. Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly. Clin Genet. 2017 Nov; 92(5):556-558.

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