This contributed to define the currently known phenotype of B4GALT7-related EDS, with round flat face, proptosis, short stature, hypotonia, radioulnar synostosis, osteopenia, hyperextensible skin and joint hypermobility (OMIM #130070) [24,25,31,32,33]. The gene discussed is B4GALT7; the disease is Ehlers-Danlos syndrome.