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]

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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