This website provides information on patients with mutations in the OFD1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the OFD1 gene is a multisystem disorder characterized by abnormalities of the face, oral cavity and digits. The involvement of the central nervous system and the presence of cysts affecting kidneys and/or ovary and/or liver is frequently observed.
Not all individuals with a mutation in the OFD1 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 OFD1 gene.
Brunella Franco, MD, Telethon Institute of Genetics and Medicine and Federico II University of Naples, Pozzuoli (Naples), Italy, firstname.lastname@example.org