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 http://www.orphadata.org. Data version April 2024
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Goldberg-Shprintzen megacolon syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.