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Goldberg-Shprintzen Megacolon Syndrome
GOSHS; Goldberg-Shprintzen Syndrome
Goldberg-Shprintzen megacolon syndrome (GOSHS) is a very rare connective tissue condition. It is characterized by a swollen, irritated colon (megacolon); characteristic facial features; a small head, and intellectual disability. Explore symptoms, causes, and genetics of this condition.
Small Intestine Highlighted, Colon, Liver, and Stomach
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Megacolon x-ray with contrast
Image by Nessuno
Source: Genetic and Rare Diseases (GARD) Information Center
Mutation
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Source: Genetic and Rare Diseases (GARD) Information Center
autosomal recessive pattern of inheritance
Image by Thomas Shafee and TheVisualMD
Goldberg-Shprintzen megacolon syndrome (GOSHS) is inherited in an autosomal recessive pattern.[] All individuals inherit two copies of each gene. In order to have GOSHS, a person must have a mutation in both copies of the responsible gene (KIAA1279) in each cell. There is nothing either parent can do, before or during pregnancy, to cause a child to have this.
People with autosomal recessive conditions inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive disorder typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, each child has a:
Source: Genetic and Rare Diseases (GARD) Information Center
Hirschsprung acetylcholine
Image by Marvin 101
The symptoms of Goldberg-Shprintzen megacolon syndrome vary from individual to individual. Some people may be more severely affected than others and not everyone with GOSHS will have the same symptoms.
The most common features of this condition are:
Other features may include a defect in the iris of the eye (coloboma), short stature, incomplete closure of the roof of the mouth (cleft palate), low muscle tone, and seizures.
Source: Genetic and Rare Diseases (GARD) Information Center
Genetic testing
Image by genome.gov
Source: Genetic and Rare Diseases (GARD) Information Center
Genetic Testing
Also called: DNA Testing, Mutation Screening, Genetic Test
Genetic testing is a type of test that analyze your cells or tissue to look for any changes in your DNA. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
Treatment and Prognosis varies depending on the type of condition and the age of symptom onset.
Image by 4144132
Source: Genetic and Rare Diseases (GARD) Information Center
Prognosis Icon
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Source: Genetic and Rare Diseases (GARD) Information Center
Rare Genetic Diseases
Image by National Human Genome Research Institute (NHGRI)
Source: Genetic and Rare Diseases (GARD) Information Center
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