Overview
Von Voss-Cherstvoy syndrome is an extremely rare genetic condition that affects multiple body systems, particularly during development before and shortly after birth. This syndrome is also sometimes referred to as Von Voss-Cherstvoy-Kemperdick syndrome. It is classified under multiple congenital anomaly syndromes, meaning that affected individuals are born with a combination of birth defects involving several organ systems. The condition is characterized by a combination of features that may include heart defects, abnormalities of the hands and feet (such as extra fingers or toes, or fused digits), skeletal malformations, and sometimes abnormalities of the urinary and genital systems. Some affected individuals may also have facial differences and developmental delays. Because the syndrome is so rare, the full range of symptoms and their severity can vary from person to person. There is currently no cure for Von Voss-Cherstvoy syndrome. Treatment focuses on managing individual symptoms and may involve surgery for heart defects or limb abnormalities, physical therapy, and supportive care. A team of specialists typically works together to address the various needs of affected individuals. Early diagnosis and intervention can help improve quality of life.
Also known as:
Key symptoms:
Heart defects present at birthExtra fingers or toes (polydactyly)Fused fingers or toes (syndactyly)Skeletal abnormalitiesAbnormalities of the urinary tract or kidneysGenital abnormalitiesUnusual facial featuresShort stature or growth delaysDevelopmental delaysLimb malformations
Clinical phenotype terms (23)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Von Voss-Cherstvoy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Von Voss-Cherstvoy 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 Von Voss-Cherstvoy 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
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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.What specific birth defects does my child have, and how severe are they?,Will my child need surgery, and if so, when is the best time?,What kind of genetic testing should we pursue to confirm the diagnosis?,What is the long-term outlook for my child's heart and kidney function?,What therapies or early intervention services should we start?,What are the chances of having another child with this condition?,Are there any specialists or centers with experience in this syndrome?
Common questions about Von Voss-Cherstvoy syndrome
What is Von Voss-Cherstvoy syndrome?
Von Voss-Cherstvoy syndrome is an extremely rare genetic condition that affects multiple body systems, particularly during development before and shortly after birth. This syndrome is also sometimes referred to as Von Voss-Cherstvoy-Kemperdick syndrome. It is classified under multiple congenital anomaly syndromes, meaning that affected individuals are born with a combination of birth defects involving several organ systems. The condition is characterized by a combination of features that may include heart defects, abnormalities of the hands and feet (such as extra fingers or toes, or fused di
How is Von Voss-Cherstvoy syndrome inherited?
Von Voss-Cherstvoy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Von Voss-Cherstvoy syndrome typically begin?
Typical onset of Von Voss-Cherstvoy syndrome is neonatal. Age of onset can vary across affected individuals.