Overview
Lethal omphalocele-cleft palate syndrome is an extremely rare genetic condition that is present at birth and unfortunately is fatal in the newborn period. This syndrome is characterized by a combination of serious birth defects, most notably an omphalocele (a condition where the baby's intestines or other abdominal organs stick out through the belly button area, covered by a thin membrane) and a cleft palate (an opening or split in the roof of the mouth). Affected babies may also have other abnormalities including unusual facial features, skeletal problems, and abnormalities of the genitals. Because this condition is lethal, meaning it causes death in early infancy, treatment options are extremely limited and are focused on comfort care and supportive measures. The condition was first described in a small number of families, and very few cases have been reported in the medical literature. Due to the severity and rarity of this syndrome, prenatal detection through ultrasound may identify some of the major features such as the omphalocele before birth. Genetic counseling is strongly recommended for families who have had an affected child, as understanding the inheritance pattern can help with future family planning decisions.
Also known as:
Key symptoms:
Omphalocele (abdominal organs protruding through the belly button area)Cleft palate (opening in the roof of the mouth)Abnormal facial featuresSkeletal abnormalitiesGenital abnormalitiesSevere growth problemsBreathing difficulties at birthFeeding difficultiesLow birth weightShort limbs or limb abnormalities
Clinical phenotype terms (8)— 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 Lethal omphalocele-cleft palate syndrome.
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Specialists
View all specialists →No specialists are currently listed for Lethal omphalocele-cleft palate 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 Lethal omphalocele-cleft palate syndrome.
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Caregiver Resources
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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 specific birth defects does my baby have, and how do they relate to this syndrome?,Is genetic testing available to confirm the diagnosis and help us understand the cause?,What is the expected outcome for my baby, and what comfort measures can be provided?,What is the chance that this could happen again in a future pregnancy?,Are there prenatal tests that could detect this condition in a future pregnancy?,Can you refer us to a genetic counselor to discuss our family planning options?,What bereavement and emotional support services are available for our family?
Common questions about Lethal omphalocele-cleft palate syndrome
What is Lethal omphalocele-cleft palate syndrome?
Lethal omphalocele-cleft palate syndrome is an extremely rare genetic condition that is present at birth and unfortunately is fatal in the newborn period. This syndrome is characterized by a combination of serious birth defects, most notably an omphalocele (a condition where the baby's intestines or other abdominal organs stick out through the belly button area, covered by a thin membrane) and a cleft palate (an opening or split in the roof of the mouth). Affected babies may also have other abnormalities including unusual facial features, skeletal problems, and abnormalities of the genitals.
How is Lethal omphalocele-cleft palate syndrome inherited?
Lethal omphalocele-cleft palate syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lethal omphalocele-cleft palate syndrome typically begin?
Typical onset of Lethal omphalocele-cleft palate syndrome is neonatal. Age of onset can vary across affected individuals.