B4GALT7 and spondylodysplastic Ehlers-Danlos syndrome: B4GALT7 mutations are associated with a rare subtype of the Ehlers-Danlos syndrome (EDS), spondylodysplastic EDS (B4GALT7-spEDS; OMIM #130070), characterized by short stature, joint hypermobility, hyperelastic skin, osteopenia and ocular problems [23–28].