X-Linked Spondyloepimetaphyseal Dysplasia

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - SEMDX