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]
| Oral-facial-digital syndrome | |
|---|---|
| Other names | Orofaciodigital syndrome |
| Specialty | Rheumatology, medical genetics  |
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
- "Oral-facial-digital syndrome - Genetics Home Reference".
- "National Organization for Rare Disorders".
- Online Mendelian Inheritance in Man (OMIM) MOHR SYNDROME -252100
- Online Mendelian Inheritance in Man (OMIM) OROFACIODIGITAL SYNDROME IV; OFD4 -258860
- Online Mendelian Inheritance in Man (OMIM) OROFACIODIGITAL SYNDROME V; OFD5 -174300
- Online Mendelian Inheritance in Man (OMIM) OROFACIODIGITAL SYNDROME VI; OFD6 -277170
- Online Mendelian Inheritance in Man (OMIM) OROFACIODIGITAL SYNDROME VII; OFD7 -608518
- Online Mendelian Inheritance in Man (OMIM) OROFACIODIGITAL SYNDROME VIII; OFD8 -300484
- Online Mendelian Inheritance in Man (OMIM) OROFACIODIGITAL SYNDROME IX; OFD9 -258865
- Online Mendelian Inheritance in Man (OMIM) OROFACIODIGITAL SYNDROME X; OFD10 -165590
- Online Mendelian Inheritance in Man (OMIM) OROFACIODIGITAL SYNDROME XI; OFD11 -612913
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