Spondyloepimetaphyseal dysplasia, Shohat type
Spondyloepimetaphyseal dysplasia, Shohat type
Definition
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.
Also known as SEMD, Shohat type, spondyloepimetaphyseal dysplasia, Shohat type — per MONDO