DIS3L2

Parents

Perlman syndrome is a very rare condition that is inherited in an autosomal recessive fashion. That means an affected child carries to two genetic alterations in a single gene (having inherited a single genetic alteration from each of their parents. Features of Perlman syndrome are generally present before and after birth (see below). For example prenatal features include excessive amniotic fluid (poyhydramnios) and fetal overgrowth. Postnatal features include large birth weight and , delay in reaching developmental milestones, kidney anomalies and an increased risk of a childhood kidney cancer (Wilms tumor).