Spondyloepiphyseal Dysplasia

Spondyloepiphyseal Dysplasia

The distinguishing feature Spondyloepiphyseal Dysplasia is typical spine involvement (MED with spine involvement)
The genetic defect is within the gene coding Type 2 collagen

Types

1-Congenital

AD
Severe
Coxa vara, genu valgum

2-Tarda

X-linked recessive
Premature OA
Scoliosis