Description : Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short
stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002).
For a general phenotypic description and a discussion of genetic heterogeneity of
WMS, see 277600.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the latent transforming growth factor-beta-binding protein 2
gene (LTBP2, 602091.0012);