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Don’t fight Goldberg-Shprintzen megacolon syndrome alone.
Find your community on the free RareGuru App.Goldberg-Shprintzen megacolon syndrome (GOSHS) is a very rare genetic condition characterized by a swollen, irritated colon (megacolon); characteristic facial features; a small head, and intellectual disability. Most people with GOSHS also are born with Hirschsprung disease, a condition in which the colon is missing nerve cells, leading to intestinal blockage. Some patients with this condition have a defect in the iris of the eye (coloboma), brain and other central nervous system abnormalities, an opening in the roof of the mouth (cleft palate) and short stature. This condition is caused by changes (mutations) in the KIAA1279 (also known as K1F1BP ) gene, and appears to be inherited in an autosomal recessive pattern. GOSHS is diagnosed based on the signs and symptoms and through genetic testing. Treatment is based on the symptoms and may include surgery. This condition has been described in only about 15 individuals to date, and the long-term outlook for people with GOSHS is unclear.
Source: GARD Last updated on 05-01-20
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:
• Hirschsprung disease (a birth defect in which
the colon does not work correctly due to missing nerve cells)
• characteristic facial features
-wide-spaced eyes
-small head
-unusual eyebrows and hair
• intellectual/learning disability
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.
Last updated on 05-01-20
Goldberg-Shprintzen megacolon syndrome is caused by a genetic change (mutation) in the KIAA1279 gene.
Last updated on 05-01-20
The diagnosis of Goldberg-Shprintzen megacolon syndrome is made when an individual has a specific pattern of signs and symptoms seen in this condition. Genetic testing of the KIAA1279 gene can also help confirm the diagnosis.
Last updated on 05-01-20
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:
• 25% (1 in 4) chance to have the disorder
• 50% (1 in 2) chance to be an unaffected carrier like each parent
• 25% (1 in 4) chance to be unaffected and not be a carrier
Last updated on 05-01-20
The outcome of a rare disease is influenced by many factors. These include the severity of the symptoms, treatment options, other medical conditions and lifestyle influences. Goldberg-Shprinzen megacolon syndrome is very rare, and little information is known about the long-term outlook.
Last updated on 05-01-20
Goldberg-Shprintzen megacolon syndrome (GOSHS) is extremely rare. To date, there have been less than 20 case reports in the literature. The exact prevalence of GOSHS is unknown.
Last updated on 05-01-20
There is no specific treatment for Goldberg-Shprintzen megacolon syndrome. Surgery may be done to treat Hirschsprung disease. Other treatment is aimed at preventing or managing the symptoms and complications associated with this syndrome.
Last updated on 05-01-20
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