Pai syndrome
MONDO:0007956Mondo
Findings
No curated finding names Pai syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.
Definition from the Mondo Disease Ontology (MONDO:0007956), read 2026-09-29. CC BY 4.0.
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Median cleft upper lipHPOHP:0000161
- Very frequent (80% to 99% of cases)
- Midline central nervous system lipomasHPOHP:0006866
- Very frequent (80% to 99% of cases)
- Nasal polyposisHPOHP:0100582
- Very frequent (80% to 99% of cases)
- Skin tagsHPOHP:0010609
- Very frequent (80% to 99% of cases)
- Subcutaneous noduleHPOHP:0001482
- Very frequent (80% to 99% of cases)
- Abnormal oral frenulum morphologyHPOHP:0000190
- Frequent (30% to 79% of cases)
- Bifid uvulaHPOHP:0000193
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- TelecanthusHPOHP:0000506
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Occasional (5% to 29% of cases)
Show the remaining 4
- Downslanted palpebral fissuresHPOHP:0000494
- Occasional (5% to 29% of cases)
- EncephaloceleHPOHP:0002084
- Occasional (5% to 29% of cases)
- Iris colobomaHPOHP:0000612
- Occasional (5% to 29% of cases)
- Midline defect of the noseHPOHP:0004122
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: Pai syndrome
- Also called
- median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome