Oral-facial-digital syndromes (OFDS) are a group of rare genetic developmental disorder that affects the mouth, face, digits and also may cause some problems on the central nervous, kidney and the other organs.
Some publications have classified at least 13 forms of OFDS based on sign and symptoms. However, some type of syndromes is not defined very well and some of them significantly overlap with each other 1.
- type I: Papillon-League-Psaume syndrome
- type II: Mohr syndrome
- type III: Sugarman syndrome
- type IV: Baraitser-Burn syndrome
- type V: Thurston syndrome
- type VI: Varadi-Papp syndrome
- type VII: Whelan syndrome
- type VIII: oral-facial-digital syndrome, Edwards type
- type IX: OFD syndrome with retinal abnormalities
- type X: OFD with fibular aplasia
- type XI: Gabrielli syndrome
- 1. Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B. Identification of the gene for oral-facial-digital type I syndrome. (2001) American journal of human genetics. 68 (3): 569-76. Pubmed tral