The autosomal recessive disorder, adducted thumb-clubfoot syndrome, which is characterized by an adducted thumb, clubfoot, craniofacial dysmorphism, arachnodactyly cryptorchidism, an atrial septal defect, kidney defects, cranial ventricular enlargement, and psychomotor retardation, is also caused by mutations in CHST14 (p.Val49X, p.Arg135Gly, p.Leu137Gln, p.Arg213Pro, and p.Tyr293Cys) [104–106]. The gene discussed is CHST14; the disease is Ehlers-Danlos syndrome, musculocontractural type.