hyaline fibromatosis syndrome
MONDO:0009229Mondo
Findings
No curated finding names hyaline fibromatosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
17 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.
- OsteopeniaHPOHP:0000938
- 4 of 4 reported patients
- OsteoporosisHPOHP:0000939
- 4 of 4 reported patients
- Subcutaneous noduleHPOHP:0001482
- 34 of 35 reported patients
- Gingival overgrowthHPOHP:0000212
- 33 of 35 reported patients
- ArthralgiaHPOHP:0002829
- 4 of 5 reported patients
- Coarse facial featuresHPOHP:0000280
- 4 of 5 reported patients
- Flexion contractureHPOHP:0001371
- 4 of 5 reported patients
- Low-set earsHPOHP:0000369
- 3 of 5 reported patients
- Narrow faceHPOHP:0000275
- 3 of 5 reported patients
- Thickened skinHPOHP:0001072
- 3 of 5 reported patients
- DiarrheaHPOHP:0002014
- 16 of 29 reported patients
- Failure to thriveHPOHP:0001508
- 19 of 35 reported patients
Show the remaining 5
- Gingival fibromatosisHPOHP:0000169
- 1 of 2 reported patients
- Recurrent infectionsHPOHP:0002719
- 17 of 35 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 30 reported patients
- OsteolysisHPOHP:0002797
- Progressive flexion contracturesHPOHP:0005876
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 · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (2)