CHST14 and Ehlers-Danlos syndrome, musculocontractural type: Ehlers-Danlos syndrome musculocontractural type 1, which is characterized by progressive joint and skin laxity, multiple congenital contractures, progressive multi-system complications, and characteristic craniofacial features, is caused by mutations in CHST14 encoding D4ST1 (p.Val49X, p.Lys69X, p.Pro281Leu, p.Cys289Ser, p.Tyr293Cys, and p.Glu334GlyfsX107) [97–102].