Overview
Congenital vascular bone syndrome is an extremely rare condition that is present from birth and involves abnormal blood vessel formation (vascular malformations) that affects the bones. In this syndrome, unusual blood vessels develop in or around bones, which can lead to problems with bone growth, bone pain, and changes in the shape or strength of the affected bones. The vascular malformations may cause swelling, warmth, or discoloration of the skin over the affected area. Depending on which bones are involved, patients may experience differences in limb length, fractures, or difficulty with movement. Because this condition is so rare, the medical understanding of it is still limited. Diagnosis typically involves a combination of imaging studies such as X-rays, MRI scans, and sometimes CT scans to see both the bone changes and the abnormal blood vessels. Treatment is generally focused on managing symptoms rather than curing the condition. This may include pain management, orthopedic interventions to address bone deformities or fractures, and sometimes procedures to treat the vascular malformations themselves, such as embolization (blocking abnormal blood vessels) or surgery. A team of specialists is usually needed to provide the best care. Because so few cases have been described, there is no single established treatment protocol, and care is often tailored to each individual patient's needs.
Key symptoms:
Abnormal blood vessel growths in or near bonesBone painBone deformitiesSwelling over affected bonesDifferences in limb lengthSkin discoloration or birthmarks over affected areasWarmth over affected areasIncreased risk of bone fracturesDifficulty with movement or walkingAbnormal bone growth
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 Congenital vascular bone syndrome.
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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 Congenital vascular bone 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 bones and blood vessels are affected in my child's case?,What imaging or tests will be needed to monitor the condition over time?,Are there any activities my child should avoid to reduce the risk of fractures?,What treatment options are available for the vascular malformations?,Should we consider genetic testing to look for an underlying cause?,What specialists should be part of our care team?,Are there any clinical trials or research studies we could participate in?
Common questions about Congenital vascular bone syndrome
What is Congenital vascular bone syndrome?
Congenital vascular bone syndrome is an extremely rare condition that is present from birth and involves abnormal blood vessel formation (vascular malformations) that affects the bones. In this syndrome, unusual blood vessels develop in or around bones, which can lead to problems with bone growth, bone pain, and changes in the shape or strength of the affected bones. The vascular malformations may cause swelling, warmth, or discoloration of the skin over the affected area. Depending on which bones are involved, patients may experience differences in limb length, fractures, or difficulty with m
At what age does Congenital vascular bone syndrome typically begin?
Typical onset of Congenital vascular bone syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Congenital vascular bone syndrome?
17 specialists and care centers treating Congenital vascular bone syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.