Overview
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome (sometimes called VBFDD syndrome) is a very rare genetic condition that affects multiple parts of the body at the same time. The name describes its main features: problems with the nerves that control the internal organs (visceral neuropathy), structural differences in the brain, distinctive facial features, and delays in reaching developmental milestones like talking and walking. The condition affects the nervous system in two important ways. First, the nerves that control the digestive system and other internal organs do not work properly, which can cause serious gut problems such as severe constipation, bloating, and difficulty moving food through the intestines. Second, the brain itself may be formed differently, which contributes to intellectual disability and developmental delays. Children with this syndrome often have a characteristic appearance to their face, though this varies from person to person. Because this syndrome is so rare, treatment focuses on managing symptoms rather than curing the underlying cause. Care usually involves a team of specialists working together to support the child's development, manage digestive problems, and address any neurological needs. Early intervention with therapies such as speech, occupational, and physical therapy can make a meaningful difference in quality of life.
Key symptoms:
Severe constipation or inability to pass stool normallyBloating and abdominal pain due to poor gut movementDifficulty feeding in infancyIntellectual disability or learning difficultiesDelayed speech and language developmentDelayed motor milestones such as sitting, standing, or walkingDistinctive facial features such as widely spaced eyes or a flat nasal bridgeStructural differences in the brain seen on imagingWeak muscle tone (hypotonia)Seizures in some individualsPoor weight gain or failure to thrive in infancy
Clinical phenotype terms (25)— 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 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome.
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Specialists
View all specialists →No specialists are currently listed for Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay 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 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay 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.Which gene caused this condition in my child, and what does that mean for other family members?,What is the best way to manage my child's bowel problems, and when would surgery be considered?,What therapies should my child start right away, and how often should they attend?,Are there any clinical trials or research studies we could participate in?,What signs should prompt me to go to the emergency room?,What educational support and services should I be requesting for my child?,Are there other families or support groups who have experience with this condition?
Common questions about Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
What is Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome?
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome (sometimes called VBFDD syndrome) is a very rare genetic condition that affects multiple parts of the body at the same time. The name describes its main features: problems with the nerves that control the internal organs (visceral neuropathy), structural differences in the brain, distinctive facial features, and delays in reaching developmental milestones like talking and walking. The condition affects the nervous system in two important ways. First, the nerves that control the digestive system and other inter
How is Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome inherited?
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome typically begin?
Typical onset of Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is neonatal. Age of onset can vary across affected individuals.