Goldberg-Shprintzen megacolon syndrome is a multiple malformation disorder characterized by Hirschsprung megacolon, microcephaly, hypertelorism, submucous cleft palate, short stature, and learning problems. Some reported patients also have iris coloboma, and bilateral generalized polymicrogyria malformation of the cerebral cortex. The distinctive facial features include sparse scalp hair, synophyrs, arched eyebrows, hypertelorism, ptosis, large ears and prominent nose. Mutations in the KIAA1279 gene have been identified in patients with Goldberg-Shprintzen megacolon syndrome and homozygous nonsense mutations have been reported in 10 affected individuals in two families. Sequencing of KIAA1279 can be ordered as a single test, or as part of our Polymicrogyria Panel. Please see our information sheets for more details.
Specimen Types Accepted