wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Findings
No curated finding names wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.
Definition from the Mondo Disease Ontology (MONDO:0011501), read 2026-09-29. CC BY 4.0.
Features
14 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.
- Concave nasal ridgeHPOHP:0011120
- Very frequent (80% to 99% of cases)
- Dentinogenesis imperfectaHPOHP:0000703
- Very frequent (80% to 99% of cases)
- Abnormal cortical bone morphologyHPOHP:0003103
- Frequent (30% to 79% of cases)
- DolichocephalyHPOHP:0000268
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Pathologic fractureHPOHP:0002756
- Frequent (30% to 79% of cases)
- Periorbital fullness
Show the remaining 2
- Toe clinodactylyHPOHP:0001863
- Occasional (5% to 29% of cases)
- Reduced bone mineral densityMondoHP:0004349
Where it sits
Other names
1 name
Resolves to: wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
- Also called
- Suarez-Stickler syndrome