Orofaciodigital syndrome - Misplaced Pages

(Redirected from Oral-facial-digital syndrome) Medical condition

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).

Type

The different types are:s

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

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

Classification	D ICD-10: Q87.0 MeSH: D009958
External resources	Orphanet: 140997

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