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.

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
References in periodicals archive ?
Wang M, Clericuzio CL, Godfrey M: Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.
Currarino G, Friedman JM: A severe form of congenital contractural arachnodactyly in two newborn infants.
Macnab AJ, D'Orsogna L, Cole DEC, et al: Cardiac anomalies complicating congenital contractural arachnodactyly.
Putnam EA, Zhang H, Ramirez F, et al: Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.

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