Спондилоепіфізарна дисплазія, тип Ріардона
ORPHA:163662· ICD-10 Q77.7· Spondyloepiphyseal dysplasia, Reardon type
Визначення(English summary)
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Infancy, Neonatal