Spondyloepiphyseal Dysplasia Congenita

Spondyloepiphyseal dysplasia (SED) is a rare, type II collagen disorder characterised by short trunk disproportionate dwarfism with primary involvement of the spine and epiphysis of long bones. Two major forms of this disorder are known: SED Congenita and SED tarda.We present a case of SED Congenita having additional rare features viz. microcephaly and motor developmental delay detectable at the age of 5 years.