Table 2.

Possible Craniofacial Ciliopathies

Syndrome	Gene	Phenotype
Acromelic frontonasal dysostosis	Gli3	anterior cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle
Acrofacial dysostosis		abnormal dental position, flat cheek bones, high forehead, high nasal bridge, narrow-high arched palate, long upper lip groove, low set ears, microcephaly, micrognathia, facial cleft
Branchio-oculo-facial syndrome	TFAP2A	dolichocephaly, malformed pinnae, flat-thick nasal tip, up-slanted eyes, pseudocleft upper lip, microdontia, broad nasal bridge
C syndrome	CD96	Trigonocephaly,craniosynostosis, narrow-pointed forehead, flat-broad nasal bridge, short nose, vertical folds over inner corners of nose, deeply furrowed palate, anomalous and posteriorly angulated ears
Carpenter syndrome	Rab23	sagittal craniosynostosis, micrognathia,low-set malformed ears, flat nasal bridge, wide upturned nose, downslanting palpebral fissures
Cerebrofaciothoracic dysplasia		cleft lip palate, ocular hypertelorism, macrocephaly, brachycephaly, low hair line,narrow forehead, synophrys, epicanthal folds, low set ears, flat face, short neck
Cerebrooculonasal syndrome		absent eyes, cleft lip, high-arched palate, proboscis-like nose, large forehead, flat brow, epicanthic folds, underdeveloped cheek bones,large upper lip groove, single upper incisor, abnormal external ears,postaxial polydactyly, ocular hypertelorism
Craniofrontonasal syndrome	EFNB1	ocular hypertelorism, coronal craniosynostosis, craniofacial asymmetry, frontal bossing, downslanting palpebral fissures, broad bifid nose, low posterior hairline with an anterior widow’s peak, cleft lip/palate
Dysgnathia complex		microstomia, microglossia, aglossia, micrognathia, agnathia,ocular hypertelorism, low set ears
Ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC1)		maxillary hypoplasia, microcephaly, malformed ear, furrowed tongue
Frontonasal dysplasia		ocular hypertelorism, nasal clefting, anterior cranium bifidum occultum
Fryns syndrome		abnormal ear shape, cleft lip/palate, macrostomia, microretrognathia, broad nasal bridge, forward tilting nostrils
Greig cephalopolysyndactyly	Gli3	high forehead, frontal bossing, macrocephaly, ocular hypertelorism, broad nasal root, down-turned corners of mouth
Hypothalamic hamartomas		hydrocephalus, encephalocele, macrocephaly
Kabuki syndrome		long palpebral fissures, arched eyebrows, prominent eyelashes, prominent and/or misshapen ears, depressed nasal tip
Lenz-Majewski hyperostotic dwarfism		large cranium, broad prominent forehead, late closure of large fontanels, ocular hypertelorism, ptosis
Oculoauriculofrontonasal syndrome		microtia, preauricular tags, hemifacial microsomia, lateral face clefting, upper palpebral colobomata
Oculodentodigital dysplasia	Connexin- 43	ocular hypertelorism, small thin nose, anteverted nostrils, hypodontia, wide lower jaw
Otopalatodigital syndrome 2	Filamin A	delayed closure of anterior fontanel, prominent forehead, wide sutures, low-set ears, malformed ears, ocular hypertelorism, flat nose bridge, microstomia, micrognathia (mandibular), cleft palate, excess mineralization of skull base, under-mineralization of cranial vault, large gonial angle, broad face, midface hypoplasia
Pitt-Hopkins syndrome	TCF-4	thick lips, macrostomia, microcephaly, wide-high arched palate, broad nose, micropthalmia, beaked nose, ocular hypertelorism, Cupid’s bow upper lip
Robinow syndrome	Ror-2	macrocephaly, large anterior fontane, frontal bossing, ocular hypertelorism, ptosis, down-slanting palpebral fissures, small upturned nose, long philtrum,triangular down turned mouth, micrognathia (mandibular), hyperplastic alveolar ridges
Schinzel-Giedion midface- retraction		high protruding forehead, short nose, low nasal bridge, forward tilting nostrils, shallow orbits, drooping eyelid, ocular hypertelorism, midface hypoplasia, steep short skull base
Ven Den Ende-Gupta syndrome		narrow eye slits, narrow-beaked nose, micrognathia (maxillary), cleft palate, everted lower lip,flat cheek bones, triangular face