spondyloepiphyseal dysplasia, Kimberley type
Findings
No curated finding names spondyloepiphyseal dysplasia, Kimberley type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A spondyloepiphyseal dysplasia caused by a single allele variation in ACAN gene, characterized by short stature and premature degenerative arthropathy.
Definition from the Mondo Disease Ontology (MONDO:0012019), read 2026-09-29. CC BY 4.0.
Features
7 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.
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- OsteoarthritisHPOHP:0002758
- Very frequent (80% to 99% of cases)
- PlatyspondylyHPOHP:0000926
- Very frequent (80% to 99% of cases)
- Proportionate short statureHPOHP:0003508
- Very frequent (80% to 99% of cases)
- Short thoraxHPOHP:0010306
- Very frequent (80% to 99% of cases)
- Spondyloepiphyseal dysplasiaHPOHP:0002655
- Very frequent (80% to 99% 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
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2022