Orofaciodigital syndrome
| Orofaciodigital syndrome | |
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| Other names: Orofaciodigital syndrome | |
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| Hands show Y-shaped right third, left fourth, left fifth metacarpals | |
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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". Archived from the original on 2020-09-18. Retrieved 2021-11-06.
- ↑ "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
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