spondyloepimetaphyseal dysplasia, aggrecan type
Findings
No curated finding names spondyloepimetaphyseal dysplasia, aggrecan type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A spondyloepimetaphyseal dysplasia caused by biallelic variation in ACAN gene, characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
Definition from the Mondo Disease Ontology (MONDO:0013014), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
19 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.
- Absent nasal bridgeHPOHP:0005285
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Barrel-shaped chestHPOHP:0001552
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Broad thumbHPOHP:0011304
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Joint hypermobilityHPOHP:0001382
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- 3 of 3 reported patients
- Lumbar hyperlordosisHPOHP:0002938
Show the remaining 7
- Short fingerHPOHP:0009381
- 3 of 3 reported patients
- Short neckHPOHP:0000470
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- Very frequent (80% to 99% of cases)
- Hoarse voiceHPOHP:0001609
- 2 of 3 reported patients
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 recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
Other names
1 name
Resolves to: spondyloepimetaphyseal dysplasia, aggrecan type
- Also called
- SEMD, aggrecan type