Diagnosis is based on clinical features. General features include unilateral facial asymmetry. Ocular abnormalities include limbal dermoids and strabismus. Otorhinolaryngological features include microtia, partial to complete atresia of external acoustic meatus, preauricular skin tags, deafness, and macrosomia. Skeletal abnormalities include mandibular deformities, scoliosis. Other organ abnormalities include cardiac defects and renal abnormalities.
Goldenhar syndrome
Otocephaly
Joubert syndrome
DiGeorge syndrome
Lennox–Gastaut syndrome
Benjamin syndrome
Christianson syndrome
Timothy syndrome