Oral-facial-digital syndrome type 1 (OFD1)

Oral-facial-digital syndromes are a heterogenous group of developmental disorders of which at least nine forms have been described (Ferrante et al, 2001). Oral-facial-digital syndrome type 1 is characterized by malformations of the face, oral cavity, and digits. Typical characteristics include facial asymmetry, hypertelorism, micrognathia, broadened nasal bridge, and facial milia (Ferrante et al, 2001). Median pseudoclefting of the upper lip has been reported in 45%, palatal clefts in over 80%, clefts of the tongue in 30%. In addition, they have supernumerary frenulae in the oral cavity and alveolar ridges may be thickened (Gorlin et al, 1990, Ferrante et al, 2001). Hypodontia typically affects mandibular lateral incisors in about 50% of these patients (Gorlin et al, 1990). Hypodontia of lower lateral incisors is associated with the fibrous bands in this region. Oral-facial-digital syndrome type 1 is transmitted as an X-linked dominant condition affecting females and causing mortality in males. The gene responsible for this syndrome is OFD1 (CXORF5) in chromosome Xp22.3-22.2; many different mutations have been found in these patients (Ferrante et al, 2001).

Text adapted from Sirpa Arte: Phenotypic and genotypic features of familial hypodontia. Dissertation, Institute of Dentistry, University of Helsinki, Finland, 2001.

Jackson Mouse Genome Database Transgene Database OMIM

Text last edited 09.10.2003 by P.N. , page last created 10.12.2004 by P.N.