Beals syndrome was first described by Beals and Hecht in 1971 .
Beals syndrome is an extremely rare connective tissue disorder, characterised by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia [2,3]. The clinical features are similar to Marfan’s syndrome. It differs from Marfan's syndrome in that the incidence of cardiac abnormalities like aortic root dilatation are much lower in Beals syndrome and the presence of multiple flexion contractures is characteristic of Beals syndrome. However, patients with Beals syndrome may present with mitral valve prolapse and other congenital heart disease.
Beals syndrome is an autosomal dominant condition associated with mutation in FBN2 gene on chromosome region 5q23. The incidence of Beals syndrome is unknown and prevalence is difficult to estimate due to the overlap in phenotype with Marfan's syndrome . Males and females are equally affected. Individuals with Beals syndrome are expected to be cognitively normal. Delay in the motor development is common, due to contractures.