Living with Early urethral obstruction sequence
A rare condition in boys present from birth that affects the bladder, belly wall, and testicles.
Understanding Early urethral obstruction sequence
In its most complete form, it includes a very large bladder (megacystis) with bladder muscle that doesn't work normally. Boys also have undescended testicles. The belly muscles are thin, and the skin over the belly is loose and wrinkled, giving a 'prune-like' look.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Very large bladder (megacystis)
- Bladder muscle that doesn't work normally
- Undescended testicles
- Thin belly muscles
- Loose, wrinkled belly skin
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 rare disease patient organizations for support
- 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 doesn't describe a cause for this condition yet.
Also known as: urethral obstruction sequence
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Early urethral obstruction sequence.
Explore research for Early urethral obstruction sequence
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- Eligibility is confirmed by the study team
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