Goldberg-Shprintzen syndrome

MONDO:0012280

A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

Also known as: GOSHS, Goldberg-Shprintzen megacolon syndrome, Goldberg-Shprintzen syndrome, megacolon-microcephaly syndrome

3 clinical trials for this condition and its sub-types, 0 tagged with Goldberg-Shprintzen syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary disease (18235) ↑ Syndromic disease (7158) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Intestinal motility disease (39)

Including sub-types (3) Tagged with Goldberg-Shprintzen syndrome (0)

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