Perlman Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare, autosomal recessive syndrome characterized by the presence of polyhydramnios, neonatal macrosomia, craniofacial abnormalities, nephroblastomatosis, and predisposition to Wilms tumor. The prognosis is poor.

**Synonyms:** - Renal Hamartomas, Nephroblastomatosis and Fetal Gigantism