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. The disease is MONDO_0011252 (spondyloepimetaphyseal dysplasia, Shohat type). Also known as: SEMD, Shohat type.