Using ultrasound diagnosis, Perlman syndrome has been detected at 18 weeks.

The prognosis for Perlman syndrome is poor and it is associated with a high neonatal mortality.

The diagnosis of Perlman syndrome is based on observed phenotypic features and confirmed by histological examination of the kidneys.

Prenatal diagnosis is possible for families that have a genetic disposition for Perlman syndrome although there is no conclusive laboratory test to confirm the diagnosis.

Perlman syndrome (PS) (also called renal hamartomas, nephroblastomatosis and fetal gigantism) is a rare overgrowth disorder present at birth.

Diagnosis of Perlman syndrome also overlap with other disorders associated with Wilms tumor namely Sotos syndrome and Weaver syndrome.

Perlman syndrome shares clinical overlaps with other overgrowth disorders with similarities to Beckwith-Wiedemann syndrome and Simpson-Golabi-Behmel syndrome having been particularly emphasized in scientific study.

Perlman syndrome is an uncommon genetic disorder grouped with overgrowth syndrome in which an abnormal increase is often noted at birth in the size of the body or a body part of the infant.

The gene thought to cause some of the cases of Perlman syndrome is DIS3L2 found on chromosome 2 at 2q37.2 and is thought to have an important role in the mitotic cell cycle.