juvenile hyaline fibromatosis
Findings
No curated finding names juvenile hyaline fibromatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis.
Definition from the Mondo Disease Ontology (MONDO:0016071), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
15 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 diaphysis morphologyHPOHP:0000940
- Very frequent (80% to 99% of cases)
- Abnormal hair morphologyHPOHP:0001595
- Very frequent (80% to 99% of cases)
- Abnormal skull morphologyHPOHP:0000929
- Very frequent (80% to 99% of cases)
- Abnormality of the faceHPOHP:0000271
- Very frequent (80% to 99% of cases)
- PapuleHPOHP:0200034
- Very frequent (80% to 99% of cases)
- Subcutaneous nodule
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.
- ANTXR2HGNC:21732
- Definitive · G2P · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: juvenile hyaline fibromatosis
- Also called
- mesenchymal dysplasiaMolluscum fibrosumMurray-Puretic-Drescher syndromePuretic syndrome