Living with Palmer pagon syndrome
A very rare condition from birth with fluid buildup in the brain, hernias, and some heart and urinary differences.
Understanding Palmer pagon syndrome
It involves extra fluid in the brain's chambers (hydrocephalus), a low-set belly button, hernias in the groin, and mild facial differences. Some babies also have heart differences such as tetralogy of Fallot and urinary tract differences. GARD notes there have been no further descriptions in the medical literature since 1993.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extra fluid in the brain (hydrocephalus)
- Heart differences, such as tetralogy of Fallot
- A heart channel that stays open (patent ductus arteriosus)
- Hernia in the belly wall
- Urinary tract differences
- Folds at the corners of the eyes (epicanthus)
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 brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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 rare disease patient organizations for support
- 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 the genes (also called variants) cause this condition. GARD doesn't list a specific gene.
Also known as: congenital hydrocephalus, low insertion of umbilicus syndrome; hydrocephaly-low insertion umbilicus syndrome; palmer-pagon syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Palmer pagon syndrome.
Explore research for Palmer pagon syndrome
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- Eligibility is confirmed by the study team
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