Families

What is PVRL4-related syndrome?
PVRL4-related syndrome is a genetic condition caused by changes (pathogenic variants) in the PVRL4gene, which makes nectin-4, a protein that helps cells stick together. It typically causes partial webbing of fingers/toes (syndactyly), sparse/fragile hair with possible progressive hair loss, dental differences (small or missing teeth, weak enamel, late eruption), and thick, dry skin on the palms and soles. The condition is autosomal recessive (usually both parents of an affected individual are healthy carriers).

How many people are affected?
It is exceptionally rare, only a few families have been reported in medical literature. Once the family’s variant is known, carrier testing and prenatal/pre-implantation options are available.