Weill-Marchesani syndrome

this syndrome comprises rare congenital connective tissue disorders that affect the musculoskeletal system (short stature, pseudomuscular build, tight skin), the eyes (lens dislocation), and the heart (heart valve abnormalities) (for overview see: Wentzloff et al, 2006). The various phenotypically similar subtypes are caused by mutations in different genes:

Weill-Marchesani syndrome 1 is caused by homozygous or compound heterozygous mutation in the gene encoding the matrix metalloproteinase ADAMTS10 (see).

Weill-Marchesani syndrome 2 is an autosomal dominant form of Weill-Marchesani syndrome caused by mutations in the gene encoding fibrillin-1 (see: Asprosin).

Weill-Marchesani syndrome 3 ... ... ... ...
 
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Entry last modified: April 2021