Living with Familial omphalocele syndrome with facial dysmorphism
A rare genetic condition present from birth with an omphalocele (belly-wall opening), differences in facial features, and hand differences.
Understanding Familial omphalocele syndrome with facial dysmorphism
An omphalocele is an opening in the belly wall where organs push out. The condition also includes facial features such as a flat face, a short upturned nose, a long wide groove above the lip, and a flattened upper jaw arch. Differences in the hands can also occur. It is seen in newborns and infants.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Omphalocele (belly wall opening)
- Flat face
- Short, upturned nose
- Long, wide groove above the lip (philtrum)
- Flattened upper jaw arch
- Differences in the hands
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with O Warrior
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause it. It is autosomal dominant, which means one changed copy of a gene is enough. GARD doesn't name the gene.
Patient organizations
- O WarriorFamilial omphalocele syndrome with facial dysmorphism · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial omphalocele syndrome with facial dysmorphism.
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