short stature-advanced bone age-early-onset osteoarthritis syndrome
MONDO:0018566Mondo
Findings
No curated finding names short stature-advanced bone age-early-onset osteoarthritis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
5 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.
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Developmental stagnationHPOHP:0007281
- Frequent (30% to 79% of cases)
- Midface retrusionHPOHP:0011800
- Frequent (30% to 79% of cases)
- Short thumbHPOHP:0009778
- Frequent (30% to 79% of cases)
- OsteoarthritisHPOHP:0002758
- Occasional (5% to 29% of cases)
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.
- ACANHGNC:319
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of