Pai syndrome: a review

Francesca Olivero, Thomas Foiadelli, Sabino Luzzi, Gian Luigi Marseglia, Salvatore Savasta

Research output: Contribution to journalReview articlepeer-review


Background: Pai syndrome is a rare idiopathic developmental condition characterized by midline craniofacial abnormalities. It was originally described as the presence of a median cleft lip, cutaneous polyps of the nasal mucosa and face, and midline lipomas of the central nervous system, mostly at the corpus callosum. However, there is great phenotypical variability and these characteristics are rarely all present at once. Objective: The aim of this review was to analyze the available evidence regarding Pai syndrome in order to better delineate this rare condition and its features. Methods: We analyzed the PubMed database using the words “Pai syndrome”, “frontonasal dysplasia”, “cleft lip”, “nasal polyp”, “facial polyp”, and “corpus callosum lipoma”, including reviews, case reports and case series. Conclusion: There is no consensus regarding the diagnostic criteria of Pai syndrome up to date. It is usually diagnosed at birth, and its incidence is often underestimated. At present, the etiology of Pai syndrome is unknown. Several hypotheses regarding its genetic background have been made; however, there are not enough data yet to elucidate this point. An improved awareness could help in diagnosing the condition and performing the necessary investigations. These patients should have a multidisciplinary follow-up.

Original languageEnglish
JournalChild's Nervous System
Publication statusAccepted/In press - 2020


  • Cleft lip
  • Corpus callosum lipoma
  • Facial polyp
  • Frontonasal dysplasia
  • Nasal polyp
  • Pai syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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