SED congenita

Chinese Medical Journal, 2010, Vol. 123 No. 19 : 2727-2731

SED congenita is transmitted as an autosomal dominant trait,7 and both men and women are therefore affected equally. The gene for SED congenita has been mapped to the long arm of chromosome 12 (12q14.3). Advanced paternal age is recognized as a risk factor.

A rare genetic disease — spondyloepiphyseal dysplasia