Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. The disease is Orphanet rare-disease nomenclature entry Orphanet_2750 (Orofaciodigital syndrome type 1). Also known as: OFD1, OFDI, OFDSI, Oral-facial-digital syndrome type 1, Papillon-Léage-Psaume syndrome.