Version May 2024
| Condition | Clinical features | Radiographic features | Molecular defect |
| DI type 1 (occurs in some forms of osteogenesis imperfecta) (MIM #125490) | Variable blue-gray to yellow-brown teeth, enamel fracturing, excessive wear, primary teeth usually more affected than permanent | Variable pulp obliteration, bulbous crowns, altered root morphology, increased risk for dentigerous cysts | Mutations of collagen type 1 genes (COL1A1 and COL1A2) |
| DI type 2 (MIM #125490) | Same appearance and variability as in DI type 1, often similar severity in primary and permanent dentitions | Pulp chamber obliteration that can begin before tooth eruption, abnormal crown and root morphology | Mutations of dentin sialophosphoprotein gene (DSPP) at 4q22.1 |
| DI type 3 (MIM #125500) | Similar clinical phenotype as DI types 1 and 2 although typically severe expression with enamel loss and extensive wear occurring early | Large pulp chambers, very thin dentin, bulbous crowns, diminished root structure | Mutations of dentin sialophosphoprotein gene (DSPP) at 4q22.1 |
| Dentin dysplasia type 1 (MIM #125400) | Normal clinical crown morphology and coloration in primary and permanent dentitions, malaligned teeth, frequent dental abscess | Pulp obliteration and short blunt roots in both primary and permanent dentitions | Mutations of SPARC-related modular calcium-binding protein 2 gene (SMOC2) at 6q27 |
| Dentin dysplasia type 2 (MIM #125420) | Primary dentition has same phenotype as DI, permanent dentition has normal to slight blue-gray discoloration | Pulp obliteration in primary dentition, abnormal pulp morphology, pulp stones in permanent dentition | Mutations of dentin sialophosphoprotein gene(DSPP) at 4q22.1 |
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