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WAGR Syndrome
WAGR Syndrome
Research
- research to learn more and identify treatment to improve the patients' condition
- IWSA (International WAGR Syndrome Association)
- The International WAGR Syndrome and 11p Deletion Study
Today...
Genetics
Diagnosis
- WAGR has become a rare disease
- less and less people are affected by the disease today
- not a public health problem
- diagnosed separately
- usually sighted at birth
- if all the characteristics for WAGR is shown, patient is diagnosed with WAGR Syndrome
- birth test for WAGR
- deletion of chromosome 11
- genetic test available
- autosomal dominant
- Chromosome analysis or karyotype
- FISH(fluorescent in situ hybridization)
- Genetic counseling
Help feel better...
- therapy
- surgery for kidney
- drugs for aniridia
Sources
WAGR Syndrome
- https://ghr.nlm.nih.gov/condition/wagr-syndrome#definition
- https://www.genome.gov/26023527
- http://rarediseases.org/rare-diseases/wagr-syndrome11p-deletion-syndrome/
- http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=893
- http://wagr.org/?page_id=3496
W- Wilms Tumor; tumor in the kidney
A- Aniridia; missing section of the iris
G- Genitourinary Anomalies; problems in the urinary organs
R- Mental Retardation (Intellectual
Ability); problems with the brain
Symptoms and Population
Symptoms:
- obesity
- kidney failure
- breathing difficulty
- eye problems
- developmental problems
Population:
One in 500,000 to 1,000,000 people have WAGR Syndrome.
Also know as Chromosome 11p deletion syndrome
Treatment
W- abdominal ultrasounds, radiation therapy, or chemotherapy
A- Glasses, drugs, or surgery
G- regular evaluations and surgery to remove the kidney; hormone treatment may be needed.
R- vision, physical, occupational, or speech therapies; Special Education
Disease Progression
W- tumor may get worse
A- effects the iris (eye)
G- problems may get worse
R- with help, patient can get better