Weill-Marchesani-like syndrome is a rare congenital disorder characterized by spherophakia, myopia, ectopia lentis, glaucoma and short stature. Affected patients usually have shallow anterior chambers, peripheral iris synechiae and an axial length between 21 to 23 mm. As the name suggests, this disorder is similar to Weill-Marchesani syndrome (WMS) in its ocular symptoms. However, patients do not suffer from the brachydactyly or joint stiffness usually seen in WMS.
Weill-Marchesani-like syndrome is caused by mutations in the ADAMTS17 gene. ADAMTS17 belongs to the ADAMTS family of proteins which are involved in several biological processes such as connective tissue structure, cancer, angiogenesis and cell migration. While the specific function of ADAMTS17 is unknown, it has been speculated to play a role in the crystalline lens zonular formation or maintenance. ADAMTS17 mutations in Weill-Marchesani-like syndrome are usually inherited in autosomal recessive manner; however, sporadic mutations have also been reported.