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,[1] 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.[2]

  1. ^ Online Mendelian Inheritance in Man (OMIM): 311200
  2. ^ Badano JL, Mitsuma N, Beales PL, Katsanis N (2006). "The ciliopathies: an emerging class of human genetic disorders". Annu Rev Genom Hum Genet. 7: 125–48. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803.
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