spondylometaphyseal dysplasia, 'corner fracture' type
Findings
No curated finding names spondylometaphyseal dysplasia, 'corner fracture' type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).
Definition from the Mondo Disease Ontology (MONDO:0008479), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
56 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.
- Metaphyseal irregularityHPOHP:0003025
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- 8 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal vertebral morphologyHPOHP:0003468
- Very frequent (80% to 99% of cases)
- Corner fracture of metaphysisHPOHP:0003908
- Very frequent (80% to 99% of cases)
- Coxa varaHPOHP:0002812
- 3 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Ovoid vertebral bodiesHPOHP:0003300
- 5 of 8 reported patients
Show the remaining 44
- Limitation of joint mobilityHPOHP:0001376
- Frequent (30% to 79% of cases)
- Pectus carinatumHPOHP:0000768
- 4 of 8 reported patients
- Frequent (30% to 79% of cases)
- Short long boneHPOHP:0003026
- Frequent (30% to 79% of cases)
- Short lower limbsHPOHP:0006385
- Frequent (30% to 79% of cases)
- Upper limb undergrowthHPOHP:0009824
- Frequent (30% to 79% of cases)
- Abnormal antitragus morphologyHPOHP:0009896
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.
- FN1HGNC:3778
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: spondylometaphyseal dysplasia, 'corner fracture' type
- Also called
- spondylometaphyseal dysplasia, Sutcliffe type