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Perlman syndrome


Tuesday 31 May 2005

Definition: Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found.

Autosomal recessive inheritance has been suggested.

Prognosis is severe with neonatal death in most children.


- polyhydramnios
- macrosomia (large birth size)

- craniofacial anomalies

- cardiac malformation (10508986)
- fetal hepatic fibrosis with portoportal bridging (10508986)
- hemangioma (10508986)
- volvulus (10508986)
-  intestinal atresia (10508986)
- agenesis of the corpus callosum (10508986)
- cleft palate (10508986)

- renal anomalies

  • bilateral nephromegaly with nephroblastomatosis
  • renal dysplasia
  • bilateral renal hamartomas
  • nephroblastomatosis
  • Wilms tumor

- visceromegaly
- cryptorchidism
- diaphragmatic hernia
- interrupted aortic arch
- fetal ascites without hydrops
- abdominal muscular hypoplasia
- hypospadias
- polysplenia
- islets of Langerhans hypertrophy (hyperinsulinism)
- neonatal hemagioma (16912594)

- digestive anomalies

  • digestive volvulus
  • distal ileal atresia

- corpus callosum agenesis


- Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. (22306653)


- Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Astuti D, Morris MR, Cooper WN, Staals RH, Wake NC, Fews GA, Gill H, Gentle D, Shuib S, Ricketts CJ, Cole T, van Essen AJ, van Lingen RA, Neri G, Opitz JM, Rump P, Stolte-Dijkstra I, Müller F, Pruijn GJ, Latif F, Maher ER. Nat Genet. 2012 Feb 5. PMID: 22306653

- Henneveld HT, van Lingen RA, Hamel BC, Stolte-Dijkstra I, van Essen AJ. Perlman syndrome: four additional cases and review. Am J Med Genet. 1999 Oct 29;86(5):439-46. PMID: 10508986

- Herman TE, McAlister WH. Perlman syndrome: report of a case with additional radiographic findings. Pediatr Radiol. 1995 Nov;25 Suppl 1:S70-2. PMID: 8577560

- Greenberg F, Copeland K, Gresik MV.Expanding the spectrum of the Perlman syndrome.Am J Med Genet. 1988 Apr;29(4):773-6. PMID: 2840828

- Greenberg F, Stein F, Gresik MV, Finegold MJ, Carpenter RJ, Riccardi VM, Beaudet AL. The Perlman familial nephroblastomatosis syndrome. Am J Med Genet. 1986 May;24(1):101-10. PMID: 3010722