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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