Living with Spina bifida-hypospadias syndrome
A rare condition present at birth that combines spina bifida in the lower back with hypospadias, a difference in the opening of the penis.
Understanding Spina bifida-hypospadias syndrome
Spina bifida means the spine didn't close fully. In hypospadias, the urine opening is on the underside of the penis. Some people also have other differences, such as extra fluid in the brain (hydrocephaly), a small mouth, a heart vessel that stays open, undescended testes, twisted intestines, rocker-bottom feet and extra hair. Signs begin during pregnancy, at birth or in infancy.
Signs & symptoms
GARD lists these among the most common features:
- Spina bifida in the lower back
- Hypospadias
- Extra fluid in the brain (hydrocephaly)
- Undescended testes
- Heart vessel that stays open
- Rocker-bottom feet
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 brain and nervous system specialists, genetic specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Spina Bifida Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Spina Bifida Association
- 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 Spina Bifida Association 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, but it doesn't list a gene or how it is inherited.
Also known as: spina bifida and hypospadias syndrome
Patient organizations
- Spina Bifida AssociationSpina bifida-hypospadias syndrome · United States
- Spina Bifida Resource NetworkSpina bifida-hypospadias syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Spina bifida-hypospadias syndrome.
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