Spondyloepiphyseal dysplasia, Reardon type

Orpha code: 163662OMIM code: 600561

Definicja

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.

Disease data
Klasyfikacja

Disease

Kod ORPHA
163662
Kod OMIM
600561
Kod ICD10
Q77.7
Kod ICD11
LD24.3

No additional description.

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