Orofaciodigital syndrome 1
AN OROFACIODIGITAL SYNDROME CHARACTERIZED_BY POLYCYSTIC KIDNEY DISEASE AND VARIABLE INVOLVEMENT OF THE CENTRAL NERVOUS SYSTEM AND HAS_MATERIAL_BASIS_IN X-LINKED INHERITANCE OF THE OFD1 GENE.
Oral facial digital syndrome; Papillon-League-Psaume syndrome; Orofaciodigital syndrome type1; Papillon-Leage and Psaume syndrome; Oro-facial-digital syndrome; Papillon-Leage-Psaume Syndrome; Papillon-League and Psaume syndrome
Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, 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.