Congenital contractural arachnodactyly (Q46716)

Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterised by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially of the elbow, knee, and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in MFS.