| 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
- ^ "Oral-facial-digital syndrome - Genetics Home Reference".
- ^ "National Organization for Rare Disorders". Archived from the original on 2014-08-16. Retrieved 2015-03-02.
- ^ 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
External links
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
| 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
- ^ "Oral-facial-digital syndrome - Genetics Home Reference".
- ^ "National Organization for Rare Disorders". Archived from the original on 2014-08-16. Retrieved 2015-03-02.
- ^ 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
External links
|
| This genetic disorder article is a stub. You can help Wikipedia by expanding it. |