Orofaciodigital syndrome
| Orofaciodigital syndrome | |
|---|---|
| Other names | Orofaciodigital syndrome |
 | |
| Tongue in orofaciodigital syndrome | |
| Specialty | Rheumatology, medical genetics  |
Orofaciodigital syndrome or oral-facial-digital syndrome is a group of at least 13 related conditions that affect the development of the mouth, facial features, and digits in between 1 in 50,000 to 250,000 newborns with the majority of cases being type I (Papillon-League-Psaume syndrome).[1]
Type
The different types are:s[2]
- Type I, Papillon-League-Psaume syndrome
- Type II, Mohr syndrome[3]
- Type III, Sugarman syndrome
- Type IV, Baraitser-Burn syndrome[4]
- Type V, Thurston syndrome[5]
- Type VI, Varadi-Papp syndrome[6]
- Type VII, Whelan syndrome[7]
- Type VIII, Oral-facial-digital syndrome, Edwards type[8] (not to be confused with Edwards syndrome)
- Type IX, OFD syndrome with retinal abnormalities[9]
- Type X, OFD with fibular aplasia[10]
- Type XI, Gabrielli syndrome[11]
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