short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
Findings
No curated finding names short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.
Definition from the Mondo Disease Ontology (MONDO:0100462), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Accelerated skeletal maturationHPOHP:0005616
- 3 of 3 reported patients
- Short statureHPOHP:0004322
- 8 of 9 reported patients
- BrachydactylyHPOHP:0001156
- 6 of 9 reported patients
- Midface retrusionHPOHP:0011800
- 6 of 9 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 3 of 9 reported patients
- Mandibular prognathiaHPOHP:0000303
- 3 of 9 reported patients
- Short thumbHPOHP:0009778
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
- Definitive · Ambry Genetics · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
- Also called
- ODosteochondritis dissecans and short statureosteochondritis dissecans, short stature, and early-onset osteoarthritisSSOAOD