Overview
Familial omphalocele syndrome with facial dysmorphism is an extremely rare genetic condition that is present at birth. The hallmark feature is an 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 particular syndrome, the omphalocele occurs alongside distinctive facial features (facial dysmorphism), which may include unusual spacing of the eyes, a broad or flat nasal bridge, low-set ears, or other subtle differences in facial structure. Because this condition runs in families, it is considered a familial (inherited) form rather than an isolated birth defect. The condition is typically identified at birth or even before birth through prenatal ultrasound. The omphalocele requires surgical repair, usually shortly after delivery. The facial features may become more or less noticeable as the child grows. Because this syndrome is so rare, there is limited published medical literature, and the full range of possible symptoms and long-term outcomes is not completely understood. Management involves a team of specialists who address the abdominal wall defect, monitor growth and development, and evaluate for any additional associated abnormalities. Genetic counseling is strongly recommended for affected families to understand the inheritance pattern and recurrence risk in future pregnancies.
Key symptoms:
Abdominal organs protruding through the belly button area at birth (omphalocele)Unusual facial featuresWide-set or closely-set eyesBroad or flat nasal bridgeLow-set earsSmall jawPossible feeding difficulties in infancyPossible developmental delaysPossible additional abdominal wall abnormalities
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Familial omphalocele syndrome with facial dysmorphism.
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Specialists
View all specialists →No specialists are currently listed for Familial omphalocele syndrome with facial dysmorphism.
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 Familial omphalocele syndrome with facial dysmorphism.
Community
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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 other organ systems affected that we should be monitoring?,What genetic testing is available, and should our family members also be tested?,What is the chance this condition could occur again in a future pregnancy?,What developmental milestones should we watch for, and when should we seek early intervention?,Are there any long-term complications we should be aware of after surgical repair?,Can you refer us to a genetic counselor and any relevant support organizations?
Common questions about Familial omphalocele syndrome with facial dysmorphism
What is Familial omphalocele syndrome with facial dysmorphism?
Familial omphalocele syndrome with facial dysmorphism is an extremely rare genetic condition that is present at birth. The hallmark feature is an 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 particular syndrome, the omphalocele occurs alongside distinctive facial features (facial dysmorphism), which may include unusual spacing of the eyes, a broad or flat nasal bridge, low-set ears, or other subtle differences in facial structure. Because this condition runs in families, i
At what age does Familial omphalocele syndrome with facial dysmorphism typically begin?
Typical onset of Familial omphalocele syndrome with facial dysmorphism is neonatal. Age of onset can vary across affected individuals.