Catalog

Spondyloepimetaphyseal dysplasia, aggrecan type

No MMS code

Link to WHO Definition

Spondyloepimetaphyseal dysplasia, aggrecan type – http://id.who.int/icd/entity/1133152894

Spondyloepimetaphyseal dysplasia, aggrecan type is a form of skeletal dysplasia characterised by severe short stature, facial dysmorphism and characteristic radiographic findings.