Orofaciodigital syndrome or oral-facial-digital syndrome is a group of at least 13 related conditions that affect the development of the
mouth,
facial feature
The face is the front of an animal's head that features the eyes, nose and mouth, and through which animals express many of their emotions. The face is crucial for human identity, and damage such as scarring or developmental deformities may affe ...
s, and
digits in between 1 in 50,000 to 250,000 newborns with the majority of cases being type I (
Papillon-League-Psaume syndrome
Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of t ...
).
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Type
The different types are:s
* Type I,
Papillon-League-Psaume syndrome
Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of t ...
* Type II, Mohr syndrome
* Type III,
Sugarman syndrome
Sugarman syndrome is the common name of autosomal recessive oral-facial-digital syndrome type III, one of ten distinct genetic disorders
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be ca ...
* Type IV,
Baraitser-Burn syndrome
* Type V,
Thurston syndrome Thurston may refer to:
Places Antarctica
* Thurston Glacier, Marie Byrd Land, Antarctica
* Thurston Island, off Ellsworth Land, Antarctica
United Kingdom
* Thurston, Suffolk, England, a village
** Thurston railway station
*Thurston's Hall, a form ...
* Type VI, Varadi-Papp syndrome
* Type VII,
Whelan syndrome
The family name Whelan is an anglicisation of the Irish surname Ó Faoláin. The surname originates from the Middle Irish (plural ''Uí Faeláin'') the name of the 10th to 11th century ruling dynasty of the Déisi, a population group inhabiti ...
* Type VIII,
Oral-facial-digital syndrome, Edwards type (not to be confused with
Edwards syndrome
Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features inc ...
)
* Type IX, OFD syndrome with retinal abnormalities
* Type X, OFD with
fibular aplasia
The fibula or calf bone is a leg bone on the lateral side of the tibia, to which it is connected above and below. It is the smaller of the two bones and, in proportion to its length, the most slender of all the long bones. Its upper extremity i ...
* Type XI,
Gabrielli syndrome
References
External links
Rare syndromes
Syndromes affecting teeth
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