Overview
Familial intraosseous vascular malformation is a very rare inherited condition in which abnormal blood vessel growths (vascular malformations) develop within bones. These malformations are tangles of blood vessels that form inside the bone tissue, most commonly affecting the bones of the skull, spine, or limbs. Because the condition runs in families, multiple members across generations may be affected. The abnormal blood vessels within the bone can weaken the bone structure, leading to pain, swelling, and in some cases fractures. When the skull bones are involved, patients may notice a visible or palpable lump on the head. In more serious cases, the malformations can press on nearby nerves or the spinal cord, causing numbness, weakness, or other neurological symptoms. Some patients may have few or no symptoms and are only diagnosed when imaging is done for another reason. Treatment depends on the location and severity of the malformations. Options may include observation for mild cases, surgical removal of the affected bone area, embolization (a procedure to block blood flow to the malformation), or radiation therapy in select situations. Because this is a familial condition, genetic counseling is recommended for affected families. There is currently no cure, and management focuses on controlling symptoms and preventing complications.
Also known as:
Key symptoms:
Bone painSwelling over affected boneVisible or palpable lump on the skullBone fractures from weakened boneNumbness or tingling if nerves are compressedMuscle weakness near the affected areaHeadaches when skull bones are involvedBack pain if the spine is affectedLimited movement in affected limbsBleeding from the malformation during injury or surgery
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Familial intraosseous vascular malformation.
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Specialists
View all specialists →No specialists are currently listed for Familial intraosseous vascular malformation.
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 Familial intraosseous vascular malformation.
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.Where exactly are the vascular malformations located in my bones, and are any near critical structures?,How often should I have imaging to monitor the malformations?,What symptoms should prompt me to seek emergency care?,Are there activities I should avoid to reduce the risk of fractures or complications?,Should my family members be screened for this condition?,What are the treatment options if a malformation starts causing problems?,Is genetic testing available to identify the specific gene change in our family?
Common questions about Familial intraosseous vascular malformation
What is Familial intraosseous vascular malformation?
Familial intraosseous vascular malformation is a very rare inherited condition in which abnormal blood vessel growths (vascular malformations) develop within bones. These malformations are tangles of blood vessels that form inside the bone tissue, most commonly affecting the bones of the skull, spine, or limbs. Because the condition runs in families, multiple members across generations may be affected. The abnormal blood vessels within the bone can weaken the bone structure, leading to pain, swelling, and in some cases fractures. When the skull bones are involved, patients may notice a visibl
How is Familial intraosseous vascular malformation inherited?
Familial intraosseous vascular malformation follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.