Connective tissue disorders

Marfan syndrome is an autosomal dominant disorder affecting
connective tissues caused by mutation in the gene encoding
fibrillin 1 (FBN1). The disorder has an incidence of at least 1 in
10 000. It arises by new mutation in 25–30% of cases. In some
familial cases, the diagnosis may have gone unrecognised in
previously affected relatives because of mild presentation and
the absence of complications.