Skip to main content

Advertisement

Table 3 Phenotypes and related genetic factors of several similar syndromes

From: TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Syndromes Phenotypes Related genetic factors
Treacher Collins Facial asymmetry; Eye antimongoloid slant; Lower eyelids colobomas; Microtia TCOF1, POLR1D, POLR1C
Miller Facial asymmetry; Lower eyelids colobomas; Micrognathia; Orofacial clefts; Postaxial limb defects DHODH
Nager Facial asymmetry; Anterior limb defects; Micrognathia; Midface retrusion; Cleft palate; Microtia SF3B4
Goldenhar Facial asymmetry; Microtia; Ear and facial tags; Epibulbar dermoids; Microphthalmia; Macrostomia GSC