ACAN-related short stature spectrum
Findings
No curated finding names ACAN-related short stature spectrum yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare semidominant genetic skeletal disorder caused by a variation in ACAN gene, characterized by short stature with variable phenotypic features which may include osteochondritis dissecans, advanced bone age, early-onset arthritis, and/or features consistent with spondyloepiphyseal dysplasia, Kimberley type caused by a single allele whereas biallelic variation can cause spondyloepimetaphyseal dysplasia, aggrecan type.
Definition from the Mondo Disease Ontology (MONDO:1060149), read 2026-09-29. CC BY 4.0.
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 · ClinGen · Autosomal dominant · 2025
Where it sits
- A kind of