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 To date, no deletions/duplications in the KIAA1279 gene have been reported as causative of Goldberg-Shprintzen megacolon syndrome. Deletion/duplication analysis of KIAA1279 is performed by oligonucleotide array-CGH, and is available as an individual test or as part of the Polymicrogyria Deletion/Duplication Panel. Please see our information sheet for more details.
Specimen Types Accepted
If sending saliva, 2 kits are required.