Goldberg-Shprintzen megacolon syndrome

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Goldberg-Shprintzen megacolon syndrome

Synonyms: GOSHS | Megacolon-microcephaly syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease facial dysmorphism (sloping forehead high arched eyebrows long eyelashes telecanthus/hypertelorism ptosis prominent ears thick earlobes prominent nasal bridge thick philtrum everted lower lip vermillion and pointed chin) global developmental delay intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria or hypoplastic corpus callosum).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version March 2024

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