Individuals affected by PLOD3-related disease have multisystem features characterized by ocular abnormalities with risk for retinal detachment, sensorineural hearing loss, reduced palmar creases, finger contractures, prominent knees, scoliosis, low bone mineral density, distinct craniofacial features, variable developmental delay and risk for vascular dissection. Not all individuals with mutations in the PLOD3 gene have these features.
Craniofacial features include prominent eyes with downslanting palpebral fissures, malar or midface hypoplasia, short, upturned nose, low-set ears.
Specific ocular features include early cataract formation, myopia, and on examination flat retinae and an optically empty vitreous. Retinal detachment has been described.
Ectodermal features are variable. Reported individuals have reduced palmar creases, similar to spondylodysplastic EDS (SLC39A13). Some individuals have more severe skin involvement with blistering and erosions, similar to dystrophic EB.
Skeletal features include frequent finger contractures, prominent knees, and scoliosis. In more severe cases there are also large joint contractures.