Perlman syndrome is an overgrowth syndrome first described in 1973. It overlaps with Beckwith-Wiedemann Syndrome (BWS) and Simpson-Golabi-Behmel Syndrome (SGBS).


Inheritance: autosomal recessive or sporadic


Clinical features:

(1) neonatal macrosomia (gigantism)

(2) polyhydramnios and fetal ascites but without hydrops

(3) renal anomalies: nephromegaly, dysplasia with polycystic kidneys, bilateral hamartomas, nephroblastomatosis

(4) abdominal muscular hypoplasia and muscular hypotonia

(5) other visceromegaly

(6) distinctive facial appearance: macrocephaly

(7) cryptorchidism in males

(8) severe neurodevelopmental deficits with generalized cerebral atrophy

(9) variable other anomalies: cardiac defects, congenital diaphragmatic hernia, thymus hyperplasia



(1) Wilm’s tumor

(2) respiratory failure

(3) death soon after birth or infancy


To read more or access our algorithms and calculators, please log in or register.