Spondyloepiphyseal dysplasia, Reardon type

Orpha code: 163662OMIM code: 600561

Definition

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
Classification

Disease

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

No additional description.

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