Oral-facial-digital syndrome (OFDS): types

OFDS type I

• This is Papillon-Leage/Psaume syndrome
• It is caused by mutations in the OFD1 (CXorf5) gene
• The transmission is X-linked dominant
• It often presents in females because it is lethal in males

References

1. Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016; 5:12.
2. Diz P, Alvarez-Iglesias V, Feijoo JF, et al. A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1. Oral Dis 2011; 17:610-614.
3. Kırzıoglu Z, Oz E. Oral-facial-digital syndrome type 1: oral findings in a 6-year-old girl. J Pediatr Genet 2018; 7:92-96. 
4. Biswas A, Ghosh JK, Sinha MK, Basu K, Chatterjee S. Mohr-Claussen syndrome or oro-facial-digital syndrome (OFDS) type-II. J Pak Med Assoc 2009; 59:484-486.
5. Thomas S, Legendre M, Saunier S, et al. TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet 2012; 91:372-378.
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Related checklists

• Oral-facial-digital syndrome (OFDS): clinical features
• Oral-facial-digital syndrome type 1 (OFDS1)