The WAGR Syndrome involves a spectrum of findings.
Chromosome location: 11p13
Genes affected: deletion of both PAX6 and WT1 (about 700 kb apart)
Also may affect PRRG4 (proline rich and Gla domain 4)
Clinical findings:
W = Wilm's tumor
A = aniridia (absence of the iris)
G = genitourinary anomalies (affecting kidneys and genital tract)
R = mental retardation
Additional findings may include:
(1) recurrent pancreatitis
(2) diaphragmatic hernia
(3) multiple exostoses
(4) hyperphagia and morbid obesity
(5) streak ovaries with risk of gonadoblastoma
(6) CNS malformations
(7) nephropathy
(8) cardiac malformations
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Specialty: Genetics, Hematology Oncology
