PLOD3-related disease is an ultra-rare disorder due to changes in the PLOD3 gene. An individual with PLOD3-related disease has a change in each of their pair of PLOD3 genes. The disease is inherited in an autosomal recessive manner whereby each PLOD3 gene change is inherited, one from each parent. Sometimes the two PLOD3 gene changes are different and sometimes they are the same (homozygous).
There are very few people known to have PLOD3-related disease, with less than 10 individuals reported in the medical literature.
PLOD3-related disease affects many different parts of the body, with similar health problems identified to individuals with the connective tissue disorders, Stickler syndrome, and rare Ehlers-Danlos syndromes (EDS), and some have skin problems seen in a disorder called epidermolysis bullosa (EB).