gnathodiaphyseal dysplasia
Findings
No curated finding names gnathodiaphyseal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.
Definition from the Mondo Disease Ontology (MONDO:0008151), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
8 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.
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- Broad jawHPOHP:0012802
- Very frequent (80% to 99% of cases)
- Thickened cortex of long bonesHPOHP:0000935
- Very frequent (80% to 99% of cases)
- Mandibular osteomyelitisHPOHP:0007626
- Frequent (30% to 79% of cases)
- OsteopeniaHPOHP:0000938
- Frequent (30% to 79% of cases)
- Recurrent fracturesHPOHP:0002757
- Occasional (5% to 29% of cases)
- Scoliosis
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.
- ANO5HGNC:27337
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: gnathodiaphyseal dysplasia
- Also called
- GDD