primary intraosseous venous malformation
Findings
No curated finding names primary intraosseous venous malformation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.
Definition from the Mondo Disease Ontology (MONDO:0011744), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Progressive
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Diastasis rectiHPOHP:0001540
- 8 of 8 reported patients
- Ectopic tooth eruptionHPOHP:4000093
- 8 of 8 reported patients
- Facial asymmetryHPOHP:0000324
- 8 of 8 reported patients
- Gingival bleedingHPOHP:0000225
- 8 of 8 reported patients
- Hypochromic anemiaHPOHP:0001931
- 5 of 5 reported patients
- Supraumbilical rapheHPOHP:0410276
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ELMO2HGNC:17233
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: primary intraosseous venous malformation
- Also called
- intraosseous hemangiomaosseous venous malformation