Overview
Omphalocele syndrome, Shprintzen-Goldberg type (also called Shprintzen-Goldberg omphalocele syndrome) is an extremely rare condition present at birth. It is characterized by omphalocele, which is a birth defect where the baby's intestines or other abdominal organs stick out through the belly button area, covered by a thin membrane. In this specific syndrome, the omphalocele occurs alongside other distinctive features that set it apart from isolated omphalocele. Children born with this condition typically have a combination of abdominal wall defects (omphalocele), distinctive facial features, and other possible abnormalities. The facial features may include a wide or flat nasal bridge, widely spaced eyes, and other subtle differences. Some affected individuals may also have learning difficulties or developmental delays. Because this syndrome is so rare, the treatment approach is largely based on managing each symptom individually. The omphalocele usually requires surgical repair shortly after birth. Ongoing care involves monitoring growth, development, and any associated health problems. A team of specialists typically works together to provide comprehensive care for affected children and their families. The long-term outlook depends on the severity of the omphalocele and any additional health issues present.
Key symptoms:
Abdominal organs protruding through the belly button area (omphalocele)Distinctive facial featuresWide or flat nasal bridgeWidely spaced eyesPossible developmental delaysPossible learning difficultiesLow muscle tone in infancyPossible heart defectsPossible urinary tract abnormalitiesPossible skeletal abnormalities
Clinical phenotype terms (21)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Omphalocele syndrome, Shprintzen-Goldberg type.
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Specialists
View all specialists →No specialists are currently listed for Omphalocele syndrome, Shprintzen-Goldberg type.
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 Omphalocele syndrome, Shprintzen-Goldberg type.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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 is the size and severity of my child's omphalocele, and what surgical approach do you recommend?,Are there any associated heart, kidney, or other organ problems we should screen for?,Should we pursue genetic testing, and if so, what type of testing is recommended?,What developmental milestones should we watch for, and when should we seek early intervention?,How often will my child need follow-up appointments and with which specialists?,Are there any long-term complications we should be aware of after omphalocele repair?,Can you connect us with other families who have experienced a similar diagnosis?
Common questions about Omphalocele syndrome, Shprintzen-Goldberg type
What is Omphalocele syndrome, Shprintzen-Goldberg type?
Omphalocele syndrome, Shprintzen-Goldberg type (also called Shprintzen-Goldberg omphalocele syndrome) is an extremely rare condition present at birth. It is characterized by omphalocele, which is a birth defect where the baby's intestines or other abdominal organs stick out through the belly button area, covered by a thin membrane. In this specific syndrome, the omphalocele occurs alongside other distinctive features that set it apart from isolated omphalocele. Children born with this condition typically have a combination of abdominal wall defects (omphalocele), distinctive facial features,
How is Omphalocele syndrome, Shprintzen-Goldberg type inherited?
Omphalocele syndrome, Shprintzen-Goldberg type follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Omphalocele syndrome, Shprintzen-Goldberg type typically begin?
Typical onset of Omphalocele syndrome, Shprintzen-Goldberg type is neonatal. Age of onset can vary across affected individuals.