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At a glance

WAGR is an acronym that stands for Wilms tumor, Aniridia, Genitourinary anomalies (eg, ambiguous genitalia, gonadoblastoma), and mental Retardation. This medical condition is suspected at birth when a newborn presents with aniridia and genital anomalies (however, genitourinary anomalies are not always present in girls). Other ophthalmological features include cataracts and ptosis. The development of a Wilms’ tumor in older children is approximately 50%.

Synonyms

Brusa-Torricelli Syndrome; Chromosome 11p Deletion Syndrome; 11p-Syndrome; Chromosome 11p Monosomy; Deletion 11p Syndrome; Monosomy 11p; Partial Monosomy 11p; Aniridia-Wilms Tumor Syndrome.

History

The first medical report in the literature of an association between aniridia and Wilms’ tumor was written by two Italian physicians, P. Brusa and C. Torricelli, in 1953. Subsequently, six cases were reported in the literature by Robert W. Miller, an American pediatrician and epidemiologist, in 1964. At that time, it was considered that the presentation of these cases was not considered a simple coincidence and the syndrome was recognized as a separate entity.

Incidence

The prevalence of WAGR Syndrome is established at 1 in 500,000 to one million individuals. It is considered that WAGR Syndrome is present in 30% of patients presenting with aniridia. Furthermore, it is estimated that approximately 7 in 1000 cases of patients affected with Wilms’ tumor is due to WAGR Syndrome. Wilms tumor is diagnosed in the United States in approximately 8 per 1 million white children whereas the incidence appears higher in the black population. It is reported that only 2% of patients with Wilms’ tumor have an associated genetic disorder. In a US study of 3442 patients with Wilms tumor, there was a low association with aniridia (0.76%).

Genetic inheritance

It is inherited as an autosomal dominant trait. It is generally sporadic. Wilms tumor occurs in more than 30% of patients with 11p13 deletions.

Pathophysiology

Patient presents with constitutional deletions at 11p13 and alteration of the WT1 gene (Wilms tumor).

Diagnosis

Characteristic association of aniridia, nephroblastoma, and mental retardation. Affects both sexes. More often in males.

Clinical aspects

Presents with significant phenotypic variability. Clinical features can involve head and neck with microcephaly, cranial asymmetry, brachycephaly, prominent forehead, long, narrow face, large fontanelles, premature synostosis of metopic sutures, biparietal foramina, micrognathia, high and narrow palate, prominent lower lip, and down-turned upper lip. The eyes present with various abnormalities, including aniridia, glaucoma, corneal opacity, optic atrophy, strabismus, cataracts, nystagmus, blepharoptosis, and blepharophimosis; blindness is not uncommon. Ears and nose are often malformed. Genitourinary tract malformations are constant and can be associated with Wilms tumor. The anomalies consist of hypospadias, micropenis with anomalies of urethra, cryptorchidism, gonadal dysgenesis, horseshoe or fused kidneys, duplication of upper urinary tract, ...

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