Catalog

Spondyloepimetaphyseal dysplasia, Shohat type

No MMS code

Link to WHO Definition

Spondyloepimetaphyseal dysplasia, Shohat type – http://id.who.int/icd/entity/1389783101

Spondyloepimetaphyseal dysplasia congenita (SEMD), Shohat type is a form of SEMD characterised by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.