This deletion segment contains 49 OMIM genes, among which SHOX (*312865) and STS (*300747) are associated two defined CNV syndromes, the Leri‐Weill dyschondrosteosis (#127300, LWD, pseudoautosomal, by SHOX deletion) (Binder and Rappold 1993) and steroid sulfatase deficiency (#308100, X‐linked ichthyosis, hemizygous, by STS deletion) (Richard 1993). The gene discussed is SHOX; the disease is recessive X-linked ichthyosis.