Living with Pai syndrome
A rare condition with a split in the middle of the upper lip, skin and nose growths, and wide-set eyes.
Understanding Pai syndrome
It involves a split in the middle of the upper lip, small growths (polyps) on the skin and inside the nose, and fatty growths (lipomas) in the brain. Wide-set eyes and other eye differences are also seen. Development and thinking skills are generally normal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Split in the middle of the upper lip
- Cleft palate or split uvula
- Wide-set eyes (hypertelorism)
- Flat nasal bridge
- Growths in the nose (nasal polyps) or skin tags
- Fatty growths in the brain's midline
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 bone and joint specialists, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 World Craniofacial Foundation and other patient organizations
- 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. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome; median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome; median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Pai syndrome.
Explore research for Pai syndrome
Explore actively recruiting Pai syndrome studies with HealthSpark.
Find actively recruiting studies for Pai syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Pai syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Pai syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Pai syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.