Weill-Marchesani syndrome (WMS) is characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including ectopia lentis, severe myopia, glaucoma, and microspherophakia.  Additionally, some patients have cardiac valvular abnormalities.  Weill-Marchesani syndrome 1 (WMS1; MIM 277600) is an autosomal recessive disorder caused by mutations in the ADAMTS10 gene.  Weill-Marchesani syndrome 2 (WMS2; MIM 608328) is a phenotypically similar autosomal dominant disorder caused by mutations in FBN1.   A second autosomal recessive form of WMS, Weill-Marchesani syndrome 3 (WMS3; MIM 614819), is reportedly due to mutations in the LTBP2 gene.  Mutations in LTBP2 appear to show variable expressivity as some affected individuals present with all the key features of WMS, while other affected individuals from the same family do not exhibit any eye findings.  In addition to WMS3, mutations in LTBP2 also cause primary congenital glaucoma 3D (GLC3D; MIM 613086) and microspherophakia and/or megalocornea with ectopia lentis and with or without secondary glaucoma (MSPKA; MIM 251750).   A Weill-Marchesani-like syndrome (MIM 613195) has also been described.  This autosomal recessive disorder is caused by mutations in the ADAMTS17 gene. The clinical features of individuals with Weill-Marchesani-like syndrome include short stature and the eye abnormalities associated with WMS; however, these patients do not have brachydactyly or joint stiffness.

Copy number variation (CNV) analysis of the Weill-Marchesani syndrome genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.