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]

References

1. "Oral-facial-digital syndrome - Genetics Home Reference".
2. "National Organization for Rare Disorders". Archived from the original on 2014-08-16. Retrieved 2015-03-02.
3. Online Mendelian Inheritance in Man (OMIM): MOHR SYNDROME - 252100
4. Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME IV; OFD4 - 258860
5. Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME V; OFD5 - 174300
6. Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME VI; OFD6 - 277170
7. Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME VII; OFD7 - 608518
8. Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME VIII; OFD8 - 300484
9. Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME IX; OFD9 - 258865
10. Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME X; OFD10 - 165590
11. Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL SYNDROME XI; OFD11 - 612913