The portal for rare diseases and orphan drugs

Prevalence of DD-II is not known.

In DD-II, features of primary dentition resemble those observed in dentinogenesis imperfecta type 2 (DGI-2, see this term) and include amber translucent coloration, bulbous crowns, cervical constriction, tooth attrition, and short constricted roots. Pulp obliteration is also observed. The permanent dentition seems either unaffected (normal teeth morphology and color) or mild radiographic abnormalities are found (thistle tube-shaped pulp chambers and multiple pulp calcifications).

DD-II is caused by mutations in the DSPP gene (4q21.3) coding for dentin sialophosphoprotein, a precursor for dentin sialoprotein and dentin phosphoprotein which are involved in dentinogenesis.

Diagnosis is based on history, clinical examination and radiographic features. Molecular genetic testing can be used to confirm the diagnosis.

Differential diagnoses include conditions that have similar clinical or radiographic features to DD such as osteogenesis imperfecta or dentinogenesis imperfecta (see these terms).

DD-2 follows an autosomal dominant pattern of inheritance. There is therefore a 50% risk that a child born to an affected parent will have the condition.

In the primary dentition, preformed stainless steel crowns on molars may be used to prevent tooth wear and maintain the occlusal vertical dimension. Appropriate care makes it possible to achieve good esthetic appearance and functional performance.

Prognosis depends primarily on the age of diagnosis and the quality of management.