FaCD Online Syndrome Fact Sheet

Last updated: 20 Jun 2008

Name: Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation

Synonym: WAGR syndrome

Mode of Inheritance: de novo

OMIM number: 194072  


cgd(11p), mapped to 11p13-p15
PAX6, mapped to 11p13
WT1, mapped to 11p13

Tumor features

Wilms' tumor (nephroblastoma)

Tumor features (possible)

leukemia, acute myeloid (AML, incl. ANLL)
ovarian gonadoblastoma

Non-tumor features

developmental delay/mental deficiency/mental retardation
ears, malformed
genitourinary differentation defect
growth deficieny
lips, thick

Non-tumor features (possible)



This condition is characterized by the development of Wilms' tumor, Aniridia, ambiguous Genitals (mainly cryptorchism, hypospadia) and moderate to severe mental Retardation (WAGR)[1]. Growth deficiency and microcephaly has been observed in more than 50 % of the patients. Facial anomalies include less developed ears, micrognathia and prominent lips. Not all patients show all these features[3,4]. Multiple Wilms' tumors can develop in patients with WAGR[5] and in a series of more than 8500 Wilms'tumor patients, bilateral tumors were found in 17% of WAGR patients compared to 6% in non-WAGR patients (0.75% of all patients had WAGR)[6]. Renal failure is an important cause of death in this syndrome[6]. Obesity is seen in some WAGR patients[9]. Multiple exostoses have been observed in a case[10] and the same is true for AML[11] and gonadoblastoma[2].

The disorder is caused by a microdeletion of chromosome 11p including 11p13 involving at least WT1 and PAX-6. Wilms' tumor has not been observed in aniridia patients with a deletion that does not involve WT1[7,8].


WAGR Support Group 24 1 08


[1] Miller RW, Fraumeni jr JF, Manning MD. Association of Wilms's tumor with aniridia,hemihypertrophy and other congenital malformations. N Engl J Med 1964; 270(18):922-927.
[2] Ry Andersen S, Geertinger P, Larsen HW, Mikkelsen M, Parving A, Vestermark S, Warburg M. Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome 11: a clinicopathological case report. Ophthalmologica 1978; 176:171-177.
[3] Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M. WAGR syndrome: a clinical review of 54 cases. Pediatrics 2005; 116(4):984-8.
[4] Termine C, Parigi G, Rossi M, Romano P, Balottin U. WAGR syndrome: is the 'R' always justified?. Clinical dysmorphology 2007; 16(1):69-70.
[5] Uccini S, Perotti D, Colarossi C, Stoppacciaro A, Sardella M, Mannarino O, Collini P, Casieri P, Cozzi D, Amoroso L, Spreafico F, Radice P, Dominici C. Molecular evidence of the independent origin of multiple Wilms tumors in a case of WAGR syndrome. Pediatric blood & cancer 2008; .
[6] Breslow NE, Norris R, Norkool PA, Kang T, Beckwith JB, Perlman EJ, Ritchey ML, Green DM, Nichols KE, . Characteristics and outcomes of children with the Wilms tumor-Aniridia syndrome: a report from the National Wilms Tumor Study Group. Journal of clinical oncology 2003; 21(24):4579-85.
[7] van Heyningen V, Hoovers JM, de Kraker J, Crolla JA. Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion. Journal of medical genetics 2007; 44(12):787-90.
[8] Grønskov K, Olsen JH, Sand A, Pedersen W, Carlsen N, Bak Jylling AM, Lyngbye T, Brøndum-Nielsen K, Rosenberg T. Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. Human genetics 2001; 109(1):11-8.
[9] Gül D, Ogur G, Tunca Y, Ozcan O. Third case of WAGR syndrome with severe obesity and constitutional deletion of chromosome (11)(p12p14). American journal of medical genetics 2002; 107(1):70-1.
[10] McGaughran JM, Ward HB, Evans DG. WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). Journal of medical genetics 1995; 32(10):823-4.
[11] Pritchard-Jones K, Renshaw J, King-Underwood L. The Wilms tumour (WT1) gene is mutated in a secondary leukaemia in a WAGR patient. Human molecular genetics 1994; 3(9):1633-7.