Orofaciodigital syndrome 1

Orofaciodigital syndrome 1, abbreviated OFD1, is a congenital disorder inherited in an X-linked pattern. It is also known as Papillon-Leage and Psaume syndrome. Its defining features are malformations of the face, the oral cavity and the digits, together with polycystic kidney disease, and the central nervous system is involved to a variable degree. The name describes the three regions of the body most visibly affected, the mouth, the face and the fingers and toes, and distinguishes this form from other orofaciodigital syndromes numbered after it.