label: X-Linked Spondyloepimetaphyseal Dysplasia
label_lc: x-linked spondyloepimetaphyseal dysplasia
description: An X-linked condition caused by mutations(s) in the BGN gene on chromosome Xq28, encoding biglycan. It is characterized by severe short-trunk dwarfism and brachydactyly, but with normal facies and normal intelligence.