Goldberg-Shprintzen syndrome

Also known as Goldberg-Shprintzen megacolon syndrome, Shprintzen-Goldberg craniosynostosis syndrome, GOLDBERG-SHPRINTZEN SYNDROME; GOSHS, Megacolon-microcephaly syndrome, GOSHS, Goldberg–Shprintzen

syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It has material basis in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1