Oral-facial-digital syndrome

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]

Types of oral-facial-digital syndrome^[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]

References