This website provides information on patients with mutations in the PLOD3 gene, including clinical data, molecular data, management and research options.

The syndrome caused by autosomal recessive mutations in the PLOD3 gene is a multisystem disorder 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.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PLOD3 gene.

Lisa Ewans, Clinical Geneticist, SLHD Clinical Genetics Service, Department of Medical Genomics, Institute of Precision Medicine & Bioinformatics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia St Vincent's Clinical School, UNSW, Darlinghurst, NSW, Australia Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW Australia, Central Clinical School, University of Sydney, Camperdown, Sydney, NSW, Australia, lisa.ewans@gmail.com

Tony Roscioli, Clinical Geneticist, Professor, Randwick Genomics Laboratory, NSW Health pathology, Prince of Wales Hospital, Randwick, NSW, Australia Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia Neuroscience Research Australia and Prince of Wales Clinical School, UNSW, Kensington, NSW Australia, Tony.Roscioli@health.nsw.gov.au

David Sillence, Clinical Geneticist, Professor, Genetic Medicine, Children's Hospital Westmead, Westmead, NSW Australia Genomic Medicine, University of Sydney, Sydney, NSW, Australia, david.sillence@health.nsw.gov.au

Federico Forneris, Professor, The Armenise-Harvard Laboratory of Structural Biology, Department of Biology and Biotechnology, Universita degli Studi di Pavia, Pavia, Italy, federico.forneris@unipv.it