Table I.

Craniofacial ciliopathies. Tabulation of known craniofacial ciliopathies and their accompanying phenotypes, associated genes, protein localization, ciliary defect and references.

Ciliopathies with craniofacial phenotypes.

Syndrome	Craniofacial phenotype	OMIM	Genes	References
Bardet-Biedl syndrome	deep set eyes, hypertelorism, downward slanting palpebral fissures, flat nasal bridge anteverted nares, prominent nasolabial folds, long philtrum, thin upper lip, prominent forehead	209900	BBS1-14	Beales et al., 1999; Lorda-Sanchez et al., 2001
Joubert syndrome	large head and frontal prominence, prominent forehead and nasal bridge, bitemporal narrowing, epicanthal folds, ptosis, prognathism, eyebrow abnormalities, thick ear lobes trapezoid shaped mouth, lower lip eversion, upturned nose	213300	JBTS1	Maria et al., 1999
Meckel-Gruber syndrome	microcephaly, sloping forehead, occipital meningoencephalocele, cleft lip/palate, micrognathia, macrostomia, various glossal malformations	249000	MKS1-4	Fraser and Lytwyn, 1981
Orofaciodigital syndrome	malformations of the face, oral cavity, thickened alveolar ridges, abnormal dentition, absent lateral incisors, clefts of the jaw and tongue	311200	OFD1	Gorlin et al., 1961; Ferrante et al., 2001
Ellis-van Creveld syndrome	cleft lip and palate gingivo, labial musculofibrous fraenula, premature eruption of teeth, hypodontia, small cranial base, micrognathia, increased gonial angle, malocclusion	225500	EVC1-2	Susami et al., 1999; Cahuana et al., 2004 z

Asterisk indicates gene that has been associated with more that one syndrome (see text).