Living with Warsaw breakage syndrome
A genetic condition present from infancy that affects learning, growth, hearing, the heart, and facial features.
Understanding Warsaw breakage syndrome
People have intellectual disability that ranges from mild to severe. Growth is slower than usual starting before birth, leading to short stature and a small head (microcephaly). Facial features may include a small forehead, short nose, small lower jaw, and prominent cheeks. Hearing loss from inner ear nerve damage and heart differences are also common.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Small head size (microcephaly)
- Slow growth before and after birth
- Hearing loss from the inner ear
- Hole in the heart wall (ventricular septal defect)
- Narrow or sloping forehead
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 cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in DDX11 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Cancer specialists (oncologists); 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 Warsaw Breakage Syndrome Foundation
- 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
Warsaw breakage syndrome is caused by changes in the DDX11 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: wabs
Patient organizations
- Warsaw Breakage Syndrome FoundationWarsaw breakage syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Warsaw breakage syndrome.
Explore research for Warsaw breakage syndrome
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