Living with 11p partial monosomy syndrome
A genetic condition, also called WAGR syndrome, that mainly affects the eyes, kidneys, and development.
Understanding 11p partial monosomy syndrome
WAGR stands for Wilms tumor (a kidney cancer), aniridia (no colored part of the eye), genitourinary differences, and developmental delays. People with it have a 45 to 60 percent chance of Wilms tumor, most often found in children. Most have aniridia, often the first noticeable sign. Intellectual disability and other developmental delays are common. GARD lists onset as during pregnancy or as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing or small iris (colored part of the eye)
- Clouding of the eye lens (cataract)
- Involuntary eye movements (nystagmus)
- Visual impairment
- Intellectual disability
- Undescended testes (cryptorchidism)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, cancer specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Aniridia Foundation International and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition. It is listed as autosomal dominant.
Also known as: chromosome 11p13 deletion syndrome; del(11)(p13); deletion 11p13; monosomy 11p13; wagr (wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome; wagr (wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome
Patient organizations
- Aniridia Foundation International11p partial monosomy syndrome · United States
- International WAGR Syndrome Association11p partial monosomy syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with 11p partial monosomy syndrome.
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