congenital contractural arachnodactyly

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A gene on chromosome 5q23-q31 that encodes fibrillin 2, a member of the fibrillin family of glycoproteins, which is a component of connective tissue microfibrils and involved in elastic fibre assembly.

Molecular pathology
FBN2 mutations cause congenital contractural arachnodactyly.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

congenital contractural arachnodactyly

A rare autosomal dominant disease of connective tissue, structurally related to Marfan syndrome, in which people are born with arachnodactyly, multiple contractures of joints (such as the elbows, fingers, and knees), crumpled ear lobes, and severe kyphoscoliosis. Unlike patients with Marfan syndrome, patients with Beals syndrome do not have aortic abnormalities.
Synonym: Beals-Hecht syndrome; Beals syndrome
See also: arachnodactyly
Medical Dictionary, © 2009 Farlex and Partners
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