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Dentin dysplasia

Orpha number ORPHA1653
Synonym(s) DD
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Variable
ICD-10
  • K00.5
OMIM -
UMLS
  • C0011430
MeSH
  • D003805
MedDRA -
SNOMED CT
  • 109492001

Summary

Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms).

Prevalence of DD type I is 1/100,000, and that of DD type II is unknown.

There is significant overlap between different types of DD and dentinogenesis imperfecta (DGI, see this term). Two clinical subtypes of DD have been identified. Dentin dysplasia type I (DD-1, see this term) involves sharp conical short roots or rootless teeth and is associated with premature loss of teeth. Dentin dysplasia type II (DD-2, see this term) involves normal tooth roots but abnormal amber color primary dentition, permanent teeth of normal morphology and color with pulp chamber shape anomalies and multiple intrapulpal calcifications.

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

Transmission is autosomal dominant.

Expert reviewer(s)

  • Pr Agnès BLOCH-ZUPAN

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Detailed information

Review article
  • EN (2008)
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