Living with Prune belly syndrome
A condition present at birth with weak abdominal muscles, wrinkled belly skin, and urinary tract differences.
Understanding Prune belly syndrome
The belly skin wrinkles and looks like a prune. It is more common in males. Severity varies a lot. Some people have significant kidney and lung problems, while others have few or no urinary problems. GARD says the cause is unknown.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing or weak belly muscles
- Wrinkled belly skin
- Undescended testicles
- Bladder and ureter differences
- Frequent urinary tract infections
- Kidney problems
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 genetic specialists, kidney specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in CHRM3 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
- Genetic specialists (geneticists); Kidney specialists (nephrologists); Urinary and male reproductive system specialists (urologists)
- 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 Prune Belly Syndrome Network 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 the cause is unknown. It lists the CHRM3 gene, and both autosomal dominant and X-linked inheritance.
Also known as: abdominal muscle deficiency syndrome; eagle-barret syndrome; obrinsky syndrome; obrisnksy syndrome; prune belly; syndrome of agenesis of abdominal muscles
Patient organizations
- Prune Belly Syndrome NetworkPrune belly syndrome · 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 Prune belly syndrome.
Explore research for Prune belly syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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