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Up to: Spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasia, Shohat type
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.
This condition has no sub-types.