Синдром спондилоепіметафізарної дисплазії-аномального зубного ряду
ORPHA:168451· ICD-10 Q77.7· Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
Визначення(English summary)
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Infancy