WAGR Syndrome
WAGR Syndrome is a rare syndrome that is caused by a
deletion on the 11th chromosome in 11p13 region of the
PAX6 gene. WAGR is an acronym for the syndrome
conditions possible in various arrangements. These
conditions which make up the diagnosis of WAGR Syndrome
are Wilms' Tumor (cancerous tumor of the kidneys),
Aniridia (absence of the iris-colored part of the
eye), Genitourinary abnormalities (genital and
urinary problems, possibly including gonadblastoma, cancer
of the ovaries or testes), and Retardation.
Recently in some cases an O has been added as a
subset of WAGR referring to childhood obesity in some patients
with WAGR.
When a newborn child has a diagnosis of aniridia further
genetic testing needs to be done to see if the child does in
fact have the 11p13 deletion causing WAGR. It is very rare
for a WAGR patient to not have aniridia, but some cases have
been found where the patient does not have aniridia. In WAGR
patients about 50% develop Wilms' tumor. Recently it has been
shown that mutations on the PAX6 gene may not only cause ocular
malformations, but also brain and pancreas problems.
Furthermore, it has been proposed that the BDNF gene (which
is located on 11p14.1 of the PAX6) is a candidate for the
obesity and overeating in WAGR patients. Children with WAGR
need to have routine (every three months) renal ultrasounds
to check for Wilms' tumor until the age of eight. After this
age patients may have follow ups as a precaution against late
onset nephropathy (disease of the kidneys).
For more detailed information on WAGR Syndrome go to The
International WAGR Syndrome Association
at
www.wagr.org.
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