Атипова дисплазія дентину, зумовлена дефіцитом SMOC2
ORPHA:314721· ICD-10 K00.5· Atypical dentin dysplasia due to SMOC2 deficiency
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal