Orofaciodigital syndrome 1

Orofaciodigital syndrome 1
Other namesOFDI, OFDSI, Oral-facial-digital syndrome type 1
This condition is inherited in an X-linked dominant manner.
SpecialtyMedical genetics 

Orofaciodigital syndrome 1 (OFD1), also called Papillon-Léage 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.

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