Orofaciodigital syndrome 1 (OFD1), also called Papillon-Léage and Psaume syndrome,[1] is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system.

Cilia defects adversely affect numerous critical developmental signaling pathways essential to cellular development.

The most frequent symptoms are accessory oral frenulum, broad alveolar ridges, frontal bossing, high palate, hypertelorism, lobulated tongue, median cleft lip, and wide nasal bridge.

[3][4] Orofaciodigital syndrome type 1 can be treated with reconstructive surgery or the affected parts of the body.

Surgery of cleft palate, tongue nodules, additional teeth, accessory frenulae, and orthodontia for malocclusion.