Although generally absent in the newborn period, scanning nystagmus may be present in infancy. WAGR syndrome is the combination of Wilms tumour, aniridia (lack of iris), genitourinary malformation and mental retardation.This is a congenital malformation syndrome due to mutation of contiguous genes on 11p13. This type of cancer is most often diagnosed in children but is sometimes seen in adults.Most people with WAGR syndrome have aniridia, an absence of the colored part of the eye (the iris). Growth begins to slow by about age 8, and adults with this condition are not unusually tall. The protein product glypican-3 may interact with the IGF-2 receptor.Familial cases of Wilms’ tumor account for only 1% to 2% of cases and have not been associated with these syndromes. Only rarely is the mutation inherited.Newborn children with WAGR syndrome are soon noted to have aniridia. WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, anirida, genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and intellectual disability (formerly referred to as mental retardation). These conditions include WAGR syndrome, Denys-Drash syndrome, and Frasier syndrome, ... the condition follows an X-linked dominant pattern. WAGR syndrome consists of Wilms tumor, aniridia, genitourinary anomalies, and mental retardation, and is caused by deletions of 11p13 and hemizygosity in this region. Alternative splice donor sites at the end of exon 9 lead to the inclusion or omission of three amino acids (Lys-Thr-Ser, KTS) between the third and the fourth zinc finger, and both isoforms (WT1+KTS and WT1−KTS) are strongly evolutionarily conserved.Another gene whose absence prevents gonad formation is the steroidogenic factor 1 gene Approximately 1% of children with Wilms’ tumor have aniridia compared with 1 in 50 Most common cause of congenital limbal stem cell deficiencyBilateral—can occur as a sporadic isolated condition or in association with Wilms tumor, genitourinary abnormalities, and mental retardation (WAGR) syndromeFamily members may have variable presentations, with clinical aniridia in some and others with atypical iris defects ranging from radial clefts to atypical colobomas• glaucoma • foveal and optic nerve hypoplasia • nystagmus • progressive keratopathy • cataractIris findings range from clinically normal to focal or total absence of pupillary rimA stump of iris tissue peripherally is present in nearly all cases (gonioscopy sometimes needed to visualize)starts as thickened and irregular peripheral epithelium with neovascularizationwill extend centrally throughout patient's lifetimechronic epitheliopathy will lead to subepithelial fibrosis and stromal scarringUltrasound biomicroscopy (assess anterior segment anatomy, when corneal scarring limits view)A scan (assess posterior segment, control and evaluate glaucoma treatment efficacy in children)Impression cytology to evaluate stem cell deficiencyOptical coherence tomography to confirm foveal hypoplasia if media clearRefer to geneticist and pediatrician to evaluate possible genetic and systemic abnormalitiesTreat dry eye state aggressively (lubricants, bandage contact lens, tarsorrhaphy)Glaucoma control (surgical intervention often required)Penetrating or lamellar keratoplasty associated with limbal stem cell transplantationDegree of foveal hypoplasia is the strongest determining factor of visual potential in childrenCataract, aniridic keratopathy (with painful recurrent corneal ulcerations), and glaucoma are common complications as patients ageBecause the keratopathy is secondary to abnormal limbal stem cells, traditional penetrating keratopathy will fail without adjunctive limbal stem cell transplantationWe use cookies to help provide and enhance our service and tailor content and ads. It is an overgrowth syndrome phenotypically similar to the Beckwith-Wiedemann syndrome comprising macroglossia, coarse facial features, and visceromegaly. About 5% of patients develop Wilms's tumor.WAGR syndrome/11p deletion syndrome can be diagnosed at birth, based upon a clinical evaluation, characteristic physical findings, and chromosomal studies (high-resolution karyotyping and molecular cytogenetic tests). This syndrome included obesity in some but not all patients and comparison of the deleted regions between obese and nonobese patients indicated that obesity is associated with deletion of the brain-derived neurotrophic factor (Dysregulation of imprinted genes at chromosome 11p15 that control prenatal and childhood growth are believed to be the cause of the Beckwith-Wiedemann syndrome.Children whose manifestations of the Beckwith-Wiedemann syndrome include hemihypertrophy appear to have a greater risk for the occurrence of malignancy than do those who do not. Affected individuals often have difficulty processing, learning, and properly responding to information. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood.