Orofaciodigital syndrome explained
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Synonyms: | Orofaciodigital syndrome |
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] __TOC__
Type
The different types are:s[2]
- Type I, Papillon-League-Psaume syndrome
- Type II, Mohr syndrome
- Type III, Sugarman syndrome
- Type IV, Baraitser-Burn syndrome
- Type V, Thurston syndrome
- Type VI, Varadi-Papp syndrome
- Type VII, Whelan syndrome
- Type VIII, Oral-facial-digital syndrome, Edwards type (not to be confused with Edwards syndrome)
- Type IX, OFD syndrome with retinal abnormalities
- Type X, OFD with fibular aplasia
- Type XI, Gabrielli syndrome
Notes and References
- Web site: Oral-facial-digital syndrome - Genetics Home Reference.
- Web site: National Organization for Rare Disorders. 2015-03-02. https://web.archive.org/web/20140816023542/http://rarediseases.org/rare-disease-information/rare-diseases/byID/531/viewAbstract. 2014-08-16. dead.