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.
Cause
Orofaciodigital syndrome type 1 is caused by mutations in the OFD1 gene. [Source: Wikipedia 
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