Overview
Verloove Vanhorick-Brubakk syndrome is an extremely rare genetic condition that affects multiple body systems. It was first described in medical literature based on a very small number of cases, so knowledge about this syndrome is limited. The condition is characterized by a combination of birth defects that can include skeletal abnormalities, limb defects (particularly affecting the arms and hands), and other physical differences present at birth. Some individuals may also have abnormalities of the heart, kidneys, or other internal organs. Facial features may appear distinctive, and growth may be affected. Because so few cases have been reported in the medical literature, the full range of symptoms and the natural course of the disease are not completely understood. Treatment is based on managing the specific symptoms each person has, and a team of specialists is usually needed. There is currently no cure or specific targeted therapy for this syndrome. Early evaluation and supportive care can help improve quality of life. Families affected by this condition are encouraged to work closely with a clinical geneticist who can coordinate care and provide genetic counseling.
Also known as:
Key symptoms:
Limb abnormalities, especially of the arms and handsSkeletal differencesPossible heart defectsPossible kidney abnormalitiesDistinctive facial featuresGrowth problems or short staturePossible intellectual disability or developmental delayAbnormalities of the fingers or toes
Clinical phenotype terms (18)— 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 Verloove Vanhorick-Brubakk syndrome.
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Specialists
View all specialists →No specialists are currently listed for Verloove Vanhorick-Brubakk 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 Verloove Vanhorick-Brubakk 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.What specific birth defects does my child have, and how severe are they?,Are the heart and kidneys affected, and do they need treatment?,What genetic testing should be done to confirm the diagnosis?,What therapies or surgeries might my child need?,How will this condition affect my child's development and learning?,Is there a chance this condition could occur again in future pregnancies?,Are there any clinical studies or registries we should consider joining?
Common questions about Verloove Vanhorick-Brubakk syndrome
What is Verloove Vanhorick-Brubakk syndrome?
Verloove Vanhorick-Brubakk syndrome is an extremely rare genetic condition that affects multiple body systems. It was first described in medical literature based on a very small number of cases, so knowledge about this syndrome is limited. The condition is characterized by a combination of birth defects that can include skeletal abnormalities, limb defects (particularly affecting the arms and hands), and other physical differences present at birth. Some individuals may also have abnormalities of the heart, kidneys, or other internal organs. Facial features may appear distinctive, and growth ma
How is Verloove Vanhorick-Brubakk syndrome inherited?
Verloove Vanhorick-Brubakk syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Verloove Vanhorick-Brubakk syndrome typically begin?
Typical onset of Verloove Vanhorick-Brubakk syndrome is neonatal. Age of onset can vary across affected individuals.