Overview
Spina bifida-hypospadias syndrome is an extremely rare condition that combines two birth defects: spina bifida and hypospadias. Spina bifida is a defect in which the bones of the spine (vertebrae) do not fully close around the spinal cord during early development in the womb. This can range from mild forms with few symptoms to more severe forms where the spinal cord and its coverings push through an opening in the back. Hypospadias is a condition in males where the opening of the urethra (the tube that carries urine out of the body) is located on the underside of the penis rather than at the tip. Children born with this syndrome may experience problems related to both conditions, including difficulties with walking and movement, bladder and bowel control issues, and abnormalities of the urinary and reproductive systems. The severity can vary widely from person to person. Some individuals may have mild spinal defects with minimal impact, while others may have more significant neurological problems affecting the legs and lower body. Treatment is typically focused on managing each component of the syndrome. Spina bifida may require surgical repair shortly after birth, along with ongoing care for any neurological complications. Hypospadias is usually corrected through surgery, often performed in infancy or early childhood. A team of specialists including neurosurgeons, urologists, and rehabilitation doctors typically work together to provide comprehensive care. The exact genetic cause of this syndrome is not fully understood, and research into this condition remains limited due to its rarity.
Key symptoms:
Opening in the spine (spina bifida)Abnormal position of the urinary opening on the penis (hypospadias)Weakness or paralysis in the legsBladder control problemsBowel control problemsDifficulty walkingAbnormal curvature of the spineClubfoot or other foot deformitiesHydrocephalus (fluid buildup in the brain)Urinary tract infectionsReduced sensation in the lower bodyLearning difficulties in some cases
Clinical phenotype terms (3)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Spina bifida-hypospadias syndrome.
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Specialists
View all specialists →No specialists are currently listed for Spina bifida-hypospadias syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Spina bifida-hypospadias syndrome.
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's spinal defect, and what does this mean for their development?,Will my child need surgery for the spina bifida and/or hypospadias, and when should it be done?,What kind of bladder and bowel management will my child need?,Should we have genetic testing done, and what would it tell us about the risk for future children?,What therapies (physical, occupational) should we start, and how often?,Are there signs of hydrocephalus, and will a shunt be needed?,What specialists should be part of my child's care team, and how often should we see them?
Common questions about Spina bifida-hypospadias syndrome
What is Spina bifida-hypospadias syndrome?
Spina bifida-hypospadias syndrome is an extremely rare condition that combines two birth defects: spina bifida and hypospadias. Spina bifida is a defect in which the bones of the spine (vertebrae) do not fully close around the spinal cord during early development in the womb. This can range from mild forms with few symptoms to more severe forms where the spinal cord and its coverings push through an opening in the back. Hypospadias is a condition in males where the opening of the urethra (the tube that carries urine out of the body) is located on the underside of the penis rather than at the t
At what age does Spina bifida-hypospadias syndrome typically begin?
Typical onset of Spina bifida-hypospadias syndrome is neonatal. Age of onset can vary across affected individuals.