Catalog

Goldberg-Shprintzen megacolon syndrome

No MMS code

Link to WHO Definition

Goldberg-Shprintzen megacolon syndrome – http://id.who.int/icd/entity/1750921468

Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterised by Hirschsprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

Parents

LD2F.1 Syndromes with multiple structural anomalies, not of environmental origin
Syndromic conditions with disorders of intellectual development as a relevant clinical feature