Extract
Congenital contractural arachnodactyly is an autosomal dominant disorder of
connective tissue and is associated with skeletal features similar to those
seen with Marfan
syndrome1.
Congenital contractural arachnodactyly and Marfan syndrome are linked to
mutations in the highly homologous but distinct genes FBN2 (5q23-q31)
and FBN1 (15q15-q21), which encode fibrillin 2 and fibrillin 1,
respectively2.
Fibrillins are major components of extracellular matrix microfibrils, which
play an essential role in the formation of elastic fiber and the deposition of
tropoelastin and which perform anchoring functions in some
tissues3. As a
consequence of the abnormal microfibrillogenesis that is seen in association
with congenital contractural arachnodactyly and Marfan syndrome, complications
may be found in the mesodermal tissues (i.e., the ocular tissue, the skeletal,
cardiovascular, pulmonary, and muscular systems, and the skin and
integumentum).