Table 3 Phenotypes and related genetic factors of several similar syndromes
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 |