Living with Primary intraosseous venous malformation
A rare genetic condition in which blood vessels in the bones, mostly of the face and skull, expand and cause painless bone enlargement.
Understanding Primary intraosseous venous malformation
The bones, usually the lower jaw, upper jaw, and the bones around the eyes, nose and forehead, enlarge without pain. This often leads to an uneven face and changed facial shape. Midline body differences such as a gap in the belly muscles and a hernia are common. Other reported features include bleeding gums, teeth that come in in the wrong place, bulging eyes and vision loss.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Painless bone enlargement in the face
- Uneven face (facial asymmetry)
- Bulging eyes
- Bleeding gums and teeth in unusual places
- Gap between belly muscles (diastasis recti)
- Vision loss
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in ELMO2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ELMO2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: hemangioma, intraosseous; intraosseous hemangioma; osseous venous malformation; vascular malformation osseous; vascular malformation, primary intraosseous
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Primary intraosseous venous malformation.
Explore research for Primary intraosseous venous malformation
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