Spondyloepiphyseal dysplasia congenita

Rare card · No. 22207

Spondyloepiphyseal dysplasia congenita (SEDc) is a type of autosomal dominant dwarfism caused by mutations in the COL2A1 gene. Spondyloepiphyseal dysplasia congenita is present in 1 in 100,000 births, though many children are stillborn, premature, or die shortly after birth. This disorder is characterized by delayed ossification, particularly of the spine and the proximal ends of long bones (epiphyses).

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