Goldberg-Shprintzen syndrome
Goldberg-Shprintzen syndrome
Definition
A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.
Also known as Goldberg-Shprintzen megacolon syndrome, Goldberg-Shprintzen syndrome, GOSHS, megacolon-microcephaly syndrome — per MONDO