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Goldberg-Shprintzen syndrome
rareA multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.
- Identifiers
- MONDO:0012280 OMIM:609460Orphanet:66629
- Causal genes
- KIFBP
- Part of
- Hereditary diseaseIntestinal motility diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic disease
- Also known as
- Goldberg-Shprintzen megacolon syndrome · GOSHS · megacolon-microcephaly syndrome
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