Congenital contractural arachnodactyly (CCA; MIM 121050) is an autosomal dominantly inherited connective tissue disorder characterized by contractures of peripheral joints, arachnodactyly, scoliosis, "crumpled” ears and a high arched palate. CCA patients have also been reported with various cardiovascular and ocular findings. The reported cardiovascular findings include congenital heart defects, mitral valve prolapse with regurgitation and mild aortic dilation. Although ocular findings have been reported in some patients the presence of ectopia lentis in CCA is controversial. Marfan syndrome and homocystinuria due to CBS mutations are the main differential diagnosis.