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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
Goldberg-Shprintzen megacolon syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.