WAGR Syndrome
WAGR Syndrome
A rare genetic condition characterized by the acronym WAGR: Wilms tumor, Aniridia, Genitourinary anomalies, and Range of developmental delays.
Key Points
- Prevalence: Less than 1:500,000
- Caused by deletion in chromosome 11p13
- High risk of Wilms tumor (45-60%)
- Early diagnosis crucial for surveillance
Clinical Manifestations
Ocular Features
- Aniridia (complete or partial absence of iris)
- Associated complications:
- Nystagmus
- Glaucoma (50-75% risk)
- Cataracts
- Corneal opacification
- Poor visual acuity
- Photophobia
Genitourinary Abnormalities
- Wilms tumor risk (45-60%)
- Cryptorchidism
- Hypospadias
- Ambiguous genitalia
- Streak gonads
- Nephropathy
Neurological & Developmental
- Intellectual disability (70%)
- Behavioral problems:
- Autism spectrum features
- ADHD
- Anxiety
- Speech delays
- Motor delays
Additional Features
- Obesity predisposition
- Growth delays
- Craniofacial dysmorphism
- Skeletal abnormalities
Diagnostic Approach & Surveillance
Initial Diagnosis
- Genetic testing:
- Chromosomal microarray
- FISH analysis
- Next-generation sequencing
- Ophthalmologic examination
- Renal ultrasound
- Developmental assessment
Surveillance Protocol
- Renal monitoring:
- 3-4 monthly ultrasound until age 8
- Quarterly physical examination
- Annual renal function tests
- Ophthalmologic:
- Regular pressure checks
- Visual acuity monitoring
- Corneal assessment
- Growth and development:
- Regular height/weight monitoring
- Developmental assessments
- Educational evaluations
Management Strategies
Ophthalmologic Care
- Visual aids and accommodations
- Glaucoma management
- Cataract surgery if needed
- Corneal care
- Low vision rehabilitation
Oncologic Management
- Regular tumor surveillance
- Prompt treatment of Wilms tumor
- Standardized chemotherapy protocols
- Long-term follow-up
Developmental Support
- Early intervention services
- Special education support
- Speech therapy
- Occupational therapy
- Physical therapy
- Behavioral interventions
Additional Care
- Endocrine monitoring
- Weight management
- Genetic counseling
- Family support services
Genetic & Molecular Basis
Genetic Mechanism
- Chromosome 11p13 deletion including:
- WT1 gene (Wilms tumor)
- PAX6 gene (Aniridia)
- Contiguous gene deletion syndrome
- Variable deletion sizes
Molecular Testing
- Deletion analysis methods:
- FISH
- Chromosomal microarray
- NGS copy number analysis
- Genotype-phenotype correlations
- Molecular risk assessment
Inheritance & Risk
- Usually sporadic occurrence
- Rare familial cases
- Recurrence risk counseling
- Prenatal testing options
