infantile myofibromatosis
Findings
No curated finding names infantile myofibromatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.
Definition from the Mondo Disease Ontology (MONDO:0016824), read 2026-09-29. CC BY 4.0.
Features
28 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.
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormality of the musculatureHPOHP:0003011
- Very frequent (80% to 99% of cases)
- Bone cystHPOHP:0012062
- Very frequent (80% to 99% of cases)
- FibromaHPOHP:0010614
- Very frequent (80% to 99% of cases)
- Neoplasm of the skinHPOHP:0008069
- Very frequent (80% to 99% of cases)
- SarcomaHPOHP:0100242
- Very frequent (80% to 99% of cases)
- Subcutaneous nodule
Show the remaining 16
- ChondrocalcinosisHPOHP:0000934
- Frequent (30% to 79% of cases)
- Gingival fibromatosisHPOHP:0000169
- Frequent (30% to 79% of cases)
- Neoplasm of the lungHPOHP:0100526
- Frequent (30% to 79% of cases)
- Abnormal sacrum morphologyHPOHP:0005107
- Occasional (5% to 29% of cases)
- Abnormality of the eyeHPOHP:0000478
- Occasional (5% to 29% of cases)
- Abnormality of the kidneyHPOHP:0000077
- Occasional (5% to 29% of cases)
Genes
2 genes
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.
Where it sits
Other names
3 names
Resolves to: infantile myofibromatosis
- Also called
- infantile hemangiopericytomamulticentric myofibromatosismyofibromatosis