It is inherited in an autosomal dominant pattern, as a result of mutations on chromosome 4q21, in the dentine sialophosphoprotein gene (DSPP).

[5][8] Although genetic factors are the main contributor for the disease, any environmental or systemic upset that impedes calcification or metabolisation of calcium can also result in anomalous dentine.

Unlike Types I and II, it involves teeth with shell-like appearance and multiple pulp exposures.

[12] Mutations in the gene coding for the dentine sialophosphoprotein (DSPP) are associated with DI type II and III.

[2][3][4] Genetic studies have shown that type II and III may be the same sub-type of dentinogenesis imperfecta, differing only by the severity.

Radiographically, pulp appears large and the dentine layer is thin ("shell teeth" as described in Presentation section).

[3][5][8] Enamel is usually lost early because it is further inclined to attrition due to loss of scalloping at the dentinoenamel junction (DEJ).

It was suggested that the scalloping is beneficial for the mechanical properties of teeth as it reinforces the anchor between enamel and dentine.

[2] Radiographic features include: Clinical and radiographic features can be categorised by the sub-type of dentinogenesis imperfecta (see Shield's Classification in the Classification section): Clinically, both the baby (primary) and adult (permanent) teeth often appear amber coloured and translucent, and show signs of severe attrition.

[4][5] These abnormalities include: To determine if the condition has been inherited, it is suggested to ask if any other family member has Dentinogenesis imperfecta.

This ensures preservation of the patient's vertical face height between their upper and lower teeth when they bite together.

The basis of treatment is standard throughout the different types of DI where prevention, preservation of occlusal face height, maintenance of function, and aesthetic needs are priority.

Preventive efforts can limit pathology occurring within the pulp, which may render future endodontic procedures less challenging, with better outcomes.

Preservation of occlusal face height may be tackled by use of stainless steel crowns which are advocated for primary teeth where occlusal face height may be hugely compromised due to loss of tooth tissue as a result of attrition, erosion of enamel.

Due to the weakened condition of the teeth, many common cosmetic procedures such as braces and bridges are inappropriate for patients with Dentinogenesis imperfecta and are likely to cause even more damage than the situation they were intended to correct.

[14] Bisphosphonates have recently been introduced to treat several bone disorders, which include osteogenesis imperfecta.

[citation needed] A recognized risk of this drug relevant to dental treatments is bisphosphonate-associated osteonecrosis of the jaw (BRONJ).