Congenital contractural arachnodactyly

[1] As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes.

CCA is characterized by contractures of varying degrees, mainly involving the large joints, which are present in all affected children at birth.

[1][4] In addition to long fingers and toes and a tall, slender body, people with CCA often have ears that appear to be crumpled (a key distinguishing feature from Marfan syndrome[5]), joint stiffness and underdeveloped muscles (muscular hypoplasia), and they may have curved spines (congenital kyphoscoliosis).

[2] CCA may be diagnosed through the physical characteristics associated with the disease of long, slender body and contractures of multiple joints, as well as other symptoms, such as muscular hypoplasia.

[1] Children born with CCA are usually tested using echocardiograms every two years until the risks of an enlarged aorta (aortic root dilation) have been ruled out.