Final answer:
Congenital contractural arachnodactyly, characterized by long fingers and toes and contractures of joints, is most likely due to a mutation in the Fibrillin-2 gene, distinguishing it from Marfan syndrome which is related to Fibrillin-1.
Step-by-step explanation:
The features of congenital contractural arachnodactyly (CCA) are often associated with a mutation in the Fibrillin-2 (FBN2) gene. This condition is characterized by long fingers and toes, which is why it is also known as 'arachnodactyly,' meaning 'spider fingers.' Apart from the distinctive hand and foot abnormalities, individuals may experience contractures (permanent tightening of muscles or joints), and abnormally shaped ears.
CCA is similar to Marfan syndrome, which is caused by mutations in the Fibrillin-1 (FBN1) gene. However, Marfan syndrome tends to have a broader impact on the body, including the lens of the eye, the skeletal system, and the cardiovascular system. Fibrillin proteins play a critical role in the structure and function of connective tissue in the body.
Congenital conditions like CCA highlight the importance of structural proteins in the body and how their alteration due to genetic mutations can lead to various congenital disorders.