WAGR syndrome is a rare genetic disorder, affecting approximately 1:1 million births. Males and females are equally affected. "WAGR" is an acronym for the cardinal features of the syndrome: Wilms tumor, Aniridia, Genitourinary abnormalities, and Range of developmental delays. Not all cases involve all of these features. Many associated conditions are possible, affecting a wide range of body systems. 

WAGR syndrome is caused by heterozygous deletions of WT1 and PAX6 on chromosome 11p13. Size and position of the deletion varies between individuals, resulting in a range of phenotypes.

The first sign is usually Aniridia, a partial or near-complete absence of the iris. Male infants often have hypospadias and/or cryptorchidism. Internal genital anomalies may be present in females. Wilms tumor occurs in approximately 50 percent, most often between 1-3 years of age but has been reported up to age 19. Range of Developmental delay and intellectual disability ranges from mild to severe, with most in the mild to moderate range. A few individuals have normal or near-normal IQ.

Other conditions associated with WAGR syndrome include:

• BDNF gene deletion
• Auditory and Sensory Processing Disorders
• Behavioral and psychiatric disorders
• Cardiopulmonary abnormalities
• Chronic kidney disease
• Head, ears, nose, and throat abnormalities
• Metabolic and endocrine abnormalities
• Neurologic abnormalities
• Sleep disorders

Infants with isolated Aniridia should be referred for genetic testing. Recommended genetic tests include:

• Fluorescent in situ hybridization (FISH) 
• Array Comparative Genomic Hybridization (aCGH)
• Multiplex ligation-dependent probe amplification (MLPA)

Note standard metaphase karyotype (450-550 bands) alone may fail to detect some smaller-sized deletions. Lymphocyte high resolution chromosome analysis (550-800 bands) is sensitive to smaller deletions, but does not allow for identification of BDNF gene deletion, which is important to clinical management.