Congenital spondyloepiphyseal dysplasia

Congenital spondyloepiphyseal dysplasia (SED) is a rare inherited disorder transmitted in an autosomal dominant manner. This disorder is typified by a growth deficiency before birth; it is associated with spinal malformations and abnormalities of the eyes. As the individual ages, the” growth deficiency usually results in short stature (dwarfism). SED congenita may also be referred to as pseudo-achondroplasia.


 


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