PVRL1

This website provides information on patients with mutations in the PVRL1gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the PVRL1gene is a multisystem disorder characterized by cleft lip/palate, partial cutaneous syndactyly and hidrotic ectodermal dysplasia, affecting hair, dentition, nails, and palmoplantar skin. In some cases, mild cognitive delay has been reported.

Not all individuals with a mutation in the PVRL1gene 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 PVRL1gene.

Francesco Brancati, MD, PhD, Department of Clinical Medicine, Public Health, Life and Environmental Science, University of L’Aquila, Rome, Italy, francesco.brancati@univaq.it
Paola Fortugno, PhD, Department for the Promotion of Human Sciences and Quality of Life, Telematic University "San Raffaele" & IRCCS-San Raffaele Roma, Rome, Italy, paola.fortugno@uniroma5.it