label: spondyloepimetaphyseal dysplasia, Shohat type
label_lc: spondyloepimetaphyseal dysplasia, shohat type
description: A spondyloepimetaphyseal dysplasia characterized 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.