Goldberg-Shprintzen syndrome

Goldberg–Shprintzen is a condition associated with mutations in KIAA1279 gene which encodes KIF-binding protein (KBP), a protein that may interact with microtubules and actin filaments. KBP may play a key role in cytoskeleton formation and neurite growth.Hirschsprung's disease may be part of the presentation. [Source: Wikipedia ]