FaCD Online Syndrome Fact Sheet

Last updated: 20 Mar 2008

Name: Perlman syndrome

Synonym: Familial Nephroblastomatosis syndrome

Mode of Inheritance: AR

Genes

DIS3L2, mapped to 2q37.1

Tumor features

nephroblastomatosis
renal hamartoma
Wilms' tumor (nephroblastoma)

Tumor features (possible)

cutaneous hemangioma

Non-tumor features

cryptorchism
ears, low-set
fetal ascites
gigantism/overgrowth
hepatomegaly
high birth weight
hydronephrosis
hypospadia
hypotonia
lip, everted upper
macrocephaly
nasal bridge, depressed
pancreas, islet cell hyperplasia of the
polyhydramnion
renal dysplasia

Comment

This condition is characterized by visceromegaly, macrosomia, renal hamartomas, nephroblastomatosis, cryptorchism, unusual facies, polyhydramnios, fetal ascites and Wilms tumor. Cutaneous hemangioma has been reported as well.[1-9]. Germline mutations in NIS3L2 have been identified as a cause of this disorder[10].

References

[1] Neri G, Martini Neri ME, Katz BE, Opitz JM. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. Am J Med Genet 1984; 19(1):195-207.
[2] Greenberg F, Stein F, Gresik MV, Finegold MJ, Carpenter RJ, Riccardi VM, Beaudet AL. The Perlman familial nephroblastomatosis syndrome. Am J Med Genet 1986; 24(1):101-110.
[3] Grundy RG, Pritchard J, Baraitser M, Risdon A, Robards M. Perlman and Wiedemann-Beckwith syndromes: two distinct conditions associated with Wilms'tumour. Eur J Pediatr 1992; 151:895-898.
[4] Greenberg F, Copeland K, Gresik MV. Expanding the spectrum of the Perlman syndrome. Am J Med Genet 1988; 29:773-776.
[5] Perlman M. Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism, and multiple congenital anomalies [letter]. Am J Med Genet 1986; 25(4):793-795.
[6] Henneveld HTh, van Lingen RA, Hamel BCJ, Stolte-Dijkstra I, van Essen AJ. Perlman syndrome: four addittional cases and review. Am J Med Genet 1999; 86:439-446.
[7] Schilke K, Schaefer F, Waldherr R, Rohrschneider W, John C, Himbert U, Mayatepek E, Tariverdian G. A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits. Am J Med Genet 2000; 91:29-33.
[8] Lapunzina P. Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. American journal of medical genetics. Part C, Seminars in medical genetics 2005; 137(1):53-71.
[9] Pirgon O, Atabek ME, Akin F, Sert A. A case of Perlman syndrome presenting with hemorrhagic hemangioma. Journal of pediatric hematology/oncology 2006; 28(8):531-3.
[10] Astuti Dewi et al, Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nature Genetics 2012; 44:277-84.