Winchester syndrome
MONDO:0010201Mondo
Findings
No curated finding names Winchester 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 · Childhood onset
HPO, annotations 2026-09-02
Features
10 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.
- Carpal osteolysisHPOHP:0001495
- 2 of 2 reported patients
- Coarse facial featuresHPOHP:0000280
- 2 of 2 reported patients · Childhood onset
- Generalized osteoporosisHPOHP:0040160
- 2 of 2 reported patients
- KyphosisHPOHP:0002808
- 2 of 2 reported patients
- Osteolysis involving tarsal bonesHPOHP:0006234
- 2 of 2 reported patients
- HirsutismHPOHP:0001007
- 1 of 2 reported patients · Childhood onset
- Broad metacarpalsHPOHP:0001230
- 0 of 2 reported patients
- Corneal opacityHPOHP:0007957
- 0 of 2 reported patients
- Subcutaneous noduleHPOHP:0001482
- 0 of 2 reported patients
- ArthropathyHPOHP:0003040
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.
- MMP14HGNC:7160
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · G2P · Autosomal recessive · 2023
Where it sits
Other names
4 names
Resolves to: Winchester syndrome
- Also called
- MMP14-related multicentric osteolysis, nodulosis, and arthropathyMONA, MMP14-relatedmulticentric osteolysis, nodulosis and arthropathy, MMP14-relatedWNCHRS