Mutation analysis of DIS3L2 can enable a suspected clinical diagnosis of Perlman syndrome to be confirmed and exclude other overgrowth syndromes such as Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome etc.
Published reports of Perlman syndrome generally describe a poor prognosis with a high neonatal mortality rate and only a minority surviving beyond a year. The most common causes of early death are respiratory distress and/or renal failure. The availability of genetic diagnosis may facilitate the diagnosis of less severely affected cases with a better prognosis (and identify potential genotype-phenotype correlations). In view of the high risk of Wilms tumor, surveillance by three monthly abdominal ultrasonography until age 7 years is recommended.