Pai syndrome

Pai syndrome is an extremely rare congenital disorder characterized by a classic triad of midline facial defects: median cleft of the upper lip, cutaneous (skin) polyps of the facial midline (often located on the nose or philtrum), and midline lipomas of the central nervous system (particularly pericallosal lipomas). The condition is present at birth and primarily affects the craniofacial structures and the central nervous system. Unlike many midline cleft conditions, the cleft lip in Pai syndrome is a true median (midline) cleft rather than the more common lateral cleft lip, which makes it a distinctive diagnostic feature. The severity of Pai syndrome varies among affected individuals. Some patients may present with all three features of the classic triad, while others may have only one or two. Additional findings can include nasal polyps, ocular hypertelorism (widely spaced eyes), and occasionally other midline anomalies. Importantly, intellectual development is typically normal in most reported cases, which distinguishes Pai syndrome from many other conditions involving central nervous system lipomas. The cutaneous polyps are benign growths and the pericallosal lipomas are generally non-progressive. The exact cause of Pai syndrome remains unknown in most cases, and the vast majority of reported cases have been sporadic with no family history. Fewer than 60 cases have been described in the medical literature since it was first reported by Pai and colleagues in 1971. Treatment is primarily surgical and supportive, focusing on repair of the median cleft lip for functional and cosmetic purposes, and removal of facial polyps when indicated. The central nervous system lipomas typically do not require intervention unless they cause symptoms. A multidisciplinary team including craniofacial surgeons, neurologists, and geneticists is recommended for optimal management.

Common questions about Pai syndrome