Overview
Ectrodactyly-spina bifida-cardiopathy syndrome is an extremely rare condition that combines three main types of birth defects. The first is ectrodactyly, sometimes called 'split hand/foot malformation,' where fingers or toes are missing or fused, giving the hands or feet a claw-like appearance. The second feature is spina bifida, a defect in the spine where the bones of the backbone do not fully close around the spinal cord during development. This can range from mild (spina bifida occulta) to more severe open forms. The third feature involves heart (cardiac) defects, which can vary in type and severity from person to person. This syndrome is present from birth and is typically noticed right away due to the visible limb differences and findings on newborn examination. The combination of these three features together in one individual is what defines this particular syndrome, distinguishing it from isolated cases of ectrodactyly, spina bifida, or heart defects alone. Because this condition is so rare, there is no single standard treatment. Instead, management focuses on addressing each component individually. Limb differences may be managed with surgery or adaptive devices. Spina bifida may require neurosurgical intervention depending on severity. Heart defects are evaluated and treated by pediatric cardiologists, sometimes requiring surgery. A team of specialists working together provides the best care for affected individuals.
Also known as:
Key symptoms:
Missing or fused fingers or toes (split hand or foot)Cleft-like appearance of hands or feetSpinal defect where the backbone does not fully close (spina bifida)Heart defects present at birthPossible weakness or numbness in the legsPossible bladder or bowel control problemsDifficulty with fine motor skills due to hand differencesPossible difficulty walking depending on spinal involvement
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 Ectrodactyly-spina bifida-cardiopathy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Ectrodactyly-spina bifida-cardiopathy 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 Ectrodactyly-spina bifida-cardiopathy syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 heart defect, and will surgery be needed?,What type of spina bifida does my child have, and what complications should I watch for?,What surgical options are available to improve hand or foot function?,Should we pursue genetic testing, and what might it tell us about recurrence risk for future children?,What therapies (physical, occupational) should we start, and how soon?,Are there any restrictions on physical activity due to the heart or spine involvement?,How often will my child need follow-up appointments with each specialist?
Common questions about Ectrodactyly-spina bifida-cardiopathy syndrome
What is Ectrodactyly-spina bifida-cardiopathy syndrome?
Ectrodactyly-spina bifida-cardiopathy syndrome is an extremely rare condition that combines three main types of birth defects. The first is ectrodactyly, sometimes called 'split hand/foot malformation,' where fingers or toes are missing or fused, giving the hands or feet a claw-like appearance. The second feature is spina bifida, a defect in the spine where the bones of the backbone do not fully close around the spinal cord during development. This can range from mild (spina bifida occulta) to more severe open forms. The third feature involves heart (cardiac) defects, which can vary in type an
At what age does Ectrodactyly-spina bifida-cardiopathy syndrome typically begin?
Typical onset of Ectrodactyly-spina bifida-cardiopathy syndrome is neonatal. Age of onset can vary across affected individuals.