Goldberg-Shprintzen megacolon syndrome

What is the cause of Goldberg-Shprintzen megacolon syndrome?

Goldberg-Shprintzen megacolon syndrome is caused by a genetic change (mutation) in the KIAA1279 gene.

Last updated on 05-01-20

How is Goldberg-Shprintzen megacolon syndrome diagnosed?

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

How is Goldberg-Shprintzen megacolon syndrome inherited?

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

What is the long-term outlook for people with Goldberg-Shprintzen megacolon syndrome?

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

How many people have Goldberg-Shprintzen megacolon syndrome?

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

How might Goldberg-Shprintzen megacolon syndrome be treated?

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

Name: International Foundation for Functional Gastrointestinal Disorders IFFGD PO Box 170864
Milwaukee, WI, 53217, United States
Phone: +1-414-964-1799 Toll Free: 1-888-964-2001 Fax : +1-414-964-7176 Email: Url:
Name: Association of Gastrointestinal Motility Disorders AGMD Bedford, MA, 01730, United States Phone: +1-781-275-1300 Email: Url:
Name: FACES: The National Craniofacial Association PO Box 11082
Chattanooga, TN, 37401, United States
Phone: 423-266-1632 Toll Free: 800-332-2373 Email: Url:
Name: Children's Craniofacial Association 13140 Coit Road Suite 517
Dallas, TX, 75240 , United States
Phone: +1-214-570-9099 Toll Free: 1-800-535-3643 Fax : +1-214-570-8811 Email: Url:
Name: World Craniofacial Foundation P.O. Box 515838
Dallas, TX, 75251-5838, United States
Phone: 972-566-6669 Toll Free: 800-533-3315 Fax : 972-566-3850 Email: Url:
Name: National Institute of Dental and Craniofacial Research Building 31, Room 2C39 31 Center Drive, MSC 2290
Bethesda, MD, 20892,
Phone: 301-496-4261 Toll Free: 866-232-4528 Email: Url:
Salehpour S, Hashemi-Gorji F, Miryounesi M. Association of a novel nonsense mutation in KIAA1279 with Goldberg-Shprintzen syndrome Ir Jl Child Neur. Winter, 2017; 11(1). 70-74. Reference Link Goldberg-Shprintzen syndrome; GOSHS Online Mendelian Inheritance in Man (OMIM). Updated 8/7/2014; Reference Link Dafsari HS, Byrne S, Lin JP, Pitt M, Jongbloed JD, Flinter F, Jungbluth H. Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy Am J Med Genet. Jun 2015; 167(6). 1300-1304. Reference Link

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