Overview
Goldberg-Shprintzen megacolon syndrome (also called Goldberg-Shprintzen syndrome or GOSHS) is a very rare genetic condition that affects multiple parts of the body. It is caused by changes in the KIFBP gene (also known as KIF1BP). The name comes from two doctors, Goldberg and Shprintzen, who first described it. The condition is best known for causing a very enlarged large intestine (called megacolon), which makes it hard for the bowel to move stool normally. This can lead to severe constipation and, in some cases, life-threatening bowel blockages. Beyond the digestive system, Goldberg-Shprintzen syndrome also affects brain development and the nervous system. Most people with this condition have some degree of intellectual disability, delayed speech and language, and learning difficulties. Some individuals also have a condition called Hirschsprung disease, where nerve cells are missing from part of the bowel wall, making it even harder for the intestine to work properly. Other features can include a small head size (microcephaly), distinctive facial features, and in some cases, heart defects. Treatment focuses on managing symptoms rather than curing the disease. Bowel problems often require surgery, dietary changes, and medications. Developmental delays are supported through speech therapy, occupational therapy, and special education programs. Because this condition affects so many body systems, a team of different specialists is usually needed to provide the best care.
Also known as:
Key symptoms:
Very enlarged large intestine (megacolon)Severe, long-lasting constipationIntellectual disability or learning difficultiesDelayed speech and language developmentSmall head size (microcephaly)Distinctive facial features such as a broad nose and widely spaced eyesMissing nerve cells in part of the bowel (Hirschsprung disease)Feeding difficulties in infancyLow muscle tone (floppiness)Heart defects in some individualsBehavioral challengesShort stature in some cases
Clinical phenotype terms (23)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Goldberg-Shprintzen megacolon syndrome.
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Specialists
View all specialists →No specialists are currently listed for Goldberg-Shprintzen megacolon syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Goldberg-Shprintzen megacolon syndrome.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic testing do you recommend to confirm the diagnosis, and how long will results take?,Does my child have Hirschsprung disease, and if so, will surgery be needed?,What bowel management plan do you recommend, and what warning signs should send us to the emergency room?,Which specialists should be part of my child's care team, and how often should we see each one?,What therapies (speech, occupational, physical) would benefit my child most right now?,Are there any clinical trials or research studies we could participate in?,What support resources or patient organizations exist for families affected by this condition?
Common questions about Goldberg-Shprintzen megacolon syndrome
What is Goldberg-Shprintzen megacolon syndrome?
Goldberg-Shprintzen megacolon syndrome (also called Goldberg-Shprintzen syndrome or GOSHS) is a very rare genetic condition that affects multiple parts of the body. It is caused by changes in the KIFBP gene (also known as KIF1BP). The name comes from two doctors, Goldberg and Shprintzen, who first described it. The condition is best known for causing a very enlarged large intestine (called megacolon), which makes it hard for the bowel to move stool normally. This can lead to severe constipation and, in some cases, life-threatening bowel blockages. Beyond the digestive system, Goldberg-Shprint
How is Goldberg-Shprintzen megacolon syndrome inherited?
Goldberg-Shprintzen megacolon syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Goldberg-Shprintzen megacolon syndrome typically begin?
Typical onset of Goldberg-Shprintzen megacolon syndrome is neonatal. Age of onset can vary across affected individuals.