Perlman syndrome

A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome.

Signs and symptoms

• Everted upper lip vermilion
• Wide nasal bridge
• Global developmental delay
• Large for gestational age
• Tented upper lip vermilion
• Agenesis of corpus callosum
• Distal ileal atresia
• Volvulus
• Interrupted aortic arch
• Visceromegaly

Also known as: nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor; nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor; renal hamartomas, nephroblastomatosis and fetal gigantism