Characteristic facies marked by round fullness, hypotonic appearance, and micrognathia. Depressed nasal bridge. Upsweep of anterior scalp hair. Volvulus and ileac atresia. Bilateral renal hamartomas with or without nephroblastomatosis and nephromegaly.
Cryptorchidism occurs in some cases.
Wilms tumor occurs in some cases. Occasional horseshoe kidney. The syndrome is familial and is transmitted as an autosomal recessive trait. Hamartoma, Wilms tumor, and capillary hemangioma.