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. Developmental abnormalities shown by people with Goldberg–Shprintzen syndrome may be ocular (ptosis, hyperopia, or megalocornea), cardiac, urogenital (vesicoureteral reflux, multicystic renal dysplasia), and skeletal (oligodontia, scoliosis, high-arched palate).