calvarial doughnut lesions-bone fragility syndrome
Findings
No curated finding names calvarial doughnut lesions-bone fragility syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.
Definition from the Mondo Disease Ontology (MONDO:0007470), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Carious teethHPOHP:0000670
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- Recurrent fracturesHPOHP:0002757
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.
- SGMS2HGNC:28395
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019
Where it sits
Other names
2 names
Resolves to: calvarial doughnut lesions-bone fragility syndrome
- Also called
- calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasiafamilial doughnut lesions of skull