WAGR syndrome

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WAGR syndrome
OMIM	194072
DiseasesDB	14025
eMedicine	ped/2423
MeSH	D017624

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Most recent articles on WAGR syndrome Most cited articles on WAGR syndrome Review articles on WAGR syndrome Articles on WAGR syndrome in N Eng J Med, Lancet, BMJ
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Evidence Based Medicine
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Ongoing Trials on WAGR syndrome at Clinical Trials.gov Trial results on WAGR syndrome Clinical Trials on WAGR syndrome at Google
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Blogs on WAGR syndrome
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Definitions of WAGR syndrome
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: WAGR complex; Wilms tumor-aniridia syndrome; aniridia-Wilms tumor syndrome; Wilms tumor - aniridia - genitourinary anomalies - mental retardation

Overview

WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor (a tumor of the kidneys), Aniridia (absence of the colored part of the eye, the iris), Genitourinary anomalies, and mental Retardation. The G is sometimes instead given as "gonadoblastoma," since the genitourinary anomalies are tumors of the gonads (testes or ovaries).

A subset of WAGR syndrome patients shows severe childhood obesity; the acronym WAGRO (O for obesity) has been used to describe this category.

The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.

Historical Perspective

WAGR syndrome was first described by Miller et al.

Pathophysiology

WAGR syndrome is caused by a mutation on chromosome 11 in the 11p13 region. Specifically, several genes in this area are deleted, including the PAX6 ocular development gene and the Wilms' tumor gene (WT1). Abnormalities in WT1 may also cause genitourinary anomalies. Mutations in the PAX6 gene have recently been shown to not only cause ocular abnormalities, but also problems in the brain and pancreas.

Diagnosis

Newborn children with WAGR syndrome are soon noted to have aniridia. The clinical suspicion for WAGR may be increased with the presence of other genital anomalies. It must be noted that genitourinary anomalies are not always present, particularly in girls.

In older children, clinical diagnosis of the syndrome can be made when aniridia and one of the other features are present. It must be noted that while aniridia is rarely absent in WAGR syndrome, cases have been reported without it. Other common eye defects include cataracts and ptosis.

About 50% of patients develop Wilms' tumor.

Females with WAGR syndrome may have streak ovaries, which can increase their risk for gonadoblastoma. Malformations of the vagina and/or uterus may also be present.

Chromosomal analysis is necessary for definitive diagnosis.

Treatment

Children with WAGR syndrome receive regular (3-4 monthly) kidney surveillance for Wilm's tumour until at least the age of 6–8 years and thereafter remain under some follow-up because of the risk of late onset nephropathy (40% of patients over the age of 12 years).

See also

• Denys-Drash syndrome

References

External links

• International WAGR Syndrome Association

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