WAGR Syndrome

WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (e.g., ambiguous genitalia, gonadoblastoma), and mental Retardation.

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

First described by the two Italian physicians P. Brusa and C. Torricelli in 1953.

Autosomal dominant; generally sporadic.

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

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

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, hypospadias, micropenis with anomalies of urethra, cryptorchidism, gonadal dysgenesis, horseshoe or fused kidneys, duplication of upper urinary tract, kidney aplasia, or hypoplasia. Various hernias are frequent. Hemihypertrophy of the body, multiple exostoses, kyphoscoliosis, clinodactyly, and abnormal dermatoglyphics have been observed. Cardiomyopathy or ventricular septal defect can be present.

Evaluate anatomy in regard to tracheal intubation (clinically, radiography) because of micrognathia; cardiac function (clinically, echocardiography, radionuclide imaging, electrocardiogram); and renal function (ultrasound, scintigraphy, laboratory investigations including creatinine, urea, and electrolytes).

Direct laryngoscopy can be difficult because of micrognathia and may require adapted anesthetic management. Perioperative fluid regimen should be adapted to renal function. Cautious intraoperative positioning is needed because of skeletal deformation. Central neuraxial anesthesia techniques are not contraindicated, but can be difficult to perform because of kyphoscoliosis and exostosis. Pupillary signs for assessment of depth of anesthesia and neurologic examination are not usable in these patients.

Avoid nephrotoxic drugs. Consider interaction between chemotherapeutics and anesthetic drugs. Prophylactic antibiotics in case of cardiopathy and/or immunosuppression as indicated.

Denys-Drash Syndrome: Gonadal dysgenesis and nephropathy leading to renal failure. Wilms tumor is present in all cases.

Beckwith-Wiedemann Syndrome: Organomegaly, hemihypertrophy, renal cyst, adrenal cytomegaly, and Wilms tumor.

WAGRO: WAGR syndrome with severe obesity.