Living with Ochoa syndrome
An inherited condition with bladder and urinary problems and a frown-like grimace when smiling or laughing.
Understanding Ochoa syndrome
Urinary problems usually become clear in early childhood or adolescence. They include trouble controlling urine, trouble emptying the bladder, urine backing up toward the kidneys, and frequent infections. When people smile or laugh, the face may look like a frown (inversion of facial expression), which can show up as early as infancy. About two-thirds also have bowel problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of bladder control (urinary incontinence)
- Frequent urinary tract infections
- Urine backing up to the kidneys (vesicoureteral reflux)
- Swelling of the kidneys from trapped urine (hydronephrosis)
- Constipation
- Undescended testes
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 and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Association for Continence (NAFC) may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: National Association for Continence (NAFC)
- 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 National Association for Continence (NAFC) 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 cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: hydronephrosis with peculiar facial expression; hydronephrosis-inverted smile syndrome; inverted smile and occult neuropathic bladder; inverted smile-neurogenic bladder syndrome; partial facial palsy with urinary abnormalities; urofacial syndrome
Patient organizations
- National Association for Continence (NAFC)Ochoa syndrome · United States
- American Association of Kidney PatientsOchoa 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 Ochoa syndrome.
Explore research for Ochoa 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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