The condition is caused by WAC mutations that result in a loss of function via either mRNA decay or protein truncation. Most cases of DESSH syndrome are not inherited and affected people typically have no history of the disorder in their family. The genetic changes in the WAC gene occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. There are 2-3 familial recurrences due to a presumed germline mosaicism. The condition is inherited in an autosomal dominant manner.
DeSanto-Shinawi syndrome
Baggio–Yoshinari syndrome
Pelger–Huët anomaly
Urbach–Wiethe disease
Treacher Collins syndrome
Klüver–Bucy syndrome
GRACILE syndrome
Koolen–De Vries syndrome