Preferred Label : Goldberg-Shprintzen megacolon syndrome;
ICD-11 definition : Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized
by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate,
short stature and learning disability.;
Origin ID : 1750921468;
Automatic exact mappings (from CISMeF team)
Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized
by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate,
short stature and learning disability.