spondylodysplastic eds
spondylodysplastic eds (speds) is a rare and complex connective tissue disorder characterized by short stature, joint hypermobility, and distinctive craniofacial features. caused by mutations in the B4GALT7 gene, which encodes for a galactosyltransferase enzyme involved in the biosynthesis of proteoglycans. This gene mutation leads to the production of abnormal proteoglycan proteins, which result in the…