Atypical dentin dysplasia due to SMOC2 deficiency

Orpha code: 314721OMIM code: 125400

Definition

A rare, genetic, dentin dysplasia disease characterized by extreme microdontia, oligodontia, and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp), enamel hypoplasia and anterior open bite may also be associated.

Disease data
Classification

Clinical subtype

Synonyms
Dentin dysplasia type 1 with microdontia and shape anomalies
Dysplazja zębiny typu 1 z mikrodoncją i nieprawidłowym kształtem zębów
ORPHA code
314721
OMIM code
125400
ICD10 code
K00.5
ICD11 code
-

No additional description.

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