PLOD3-related disease is an ultra-rare disorder due to autosomal recessive pathogenic variants in PLOD3, with less than 10 cases reported in the medical literature. The clinical features of PLOD3-related disease are multisystemic with features primarily overlapping with the connective tissue disorder, Stickler syndrome, but also some rare Ehlers-Danlos syndromes (EDS) and epidermolysis bullosa (EB).
PLOD3