Complex EDS-like Disorders

The Linkeropathies (also called Complex EDS-like disorders) are a group of disorders that result from inherited defects in the synthesis and modification of glycosaminoglycan. The CDL offers a 7 gene panel for autosomal recessive forms of Ehlers-Danlos Syndrome (EDS) that are associated with these defects. Disorders include: progeroid Ehlers-Danlos Syndrome (EDS) (B3GALT6), EDS with short stature and limb anomalies (B4GALT7), musculocontracural-type EDS (CHST14), EDS-like connective tissue disorder (B3GAT3), spondyloepiphyseal dysplasia (CHST3), Desbuquois dysplasia (XYLT1), and spondoocular syndrome (XYLT2). This panel is recommended for individuals with possible autosomal recessive conditions whose clinical features are similar to these disorders.