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Trait

Odontodysplasia

The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.

HPO HP:0000694

Summary

Also called
Ghost teeth, Shell teeth, Teeth with dentinal dysplasia, Teeth with thin dentin and large pulp chambers, Teeth with type iii dentinogenesis imperfecta
Body system
Abnormality of head or neckAbnormality of the musculoskeletal system

2 genes linked to Odontodysplasia

Changes in these genes cause rare conditions in which Odontodysplasia is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
PHEXphosphate regulating endopeptidase X-linkedOften (30–79%)In 1 condition
DSPPdentin sialophosphoproteinNot recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Dentinogenesis imperfecta

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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