Table 2.

Differential diagnosis table for HFM (Goldenhar syndrome) [12]

	Goldenhar syndrome	Hemifacial microsomia	Treacher Collins syndrome	Branchio-oto-renal syndrome
Incidence	1/3,500–1/26,550	1/3,500–1/26,550	1/50,000	1/40,000
Etiology	Multifactorial	Multifactorial	AD: loss of function mutation of TCOF1 gene on chromosome 5	AD: -EYA1: most frequently mutated -SIX1 and SIX5 mutations reported
Unilateral or bilateral facial deformity	Usually unilateral	Usually unilateral	Usually bilateral	Not applicable
Type of hearing loss	Usually conductive	Usually conductive	Usually conductive	Conductive, sensorineural, or mixed
Ocular anomalies	Epibulbar dermoids, upper lid colobomas, microphthalmia, anophthalmia, palpebral ptosis	Anomalies similar to GS but without epibulbar dermoids	Lower lid colobomas, absent medial lower eyelashes, downward slanting of palpebral fissures, affected vision, skeletal dysmorphism of the orbits	None
Auricular anomalies	Microtia, preauricular skin tags, atresia/stenosis of external auditory canal, absence of auricle, anotia, preauricular pits/sinus, malformation of middle ear and inner ear are less common	Anomalies similar to GS, and occur in 65–99% of patients	Deformed external ear, microtia or anotia, stenosis or atresia of external auditory canal, misshaped tympanic membrane	Preauricular pits (75–85% of cases), preauricular tags, lop or bat ears, microtia, atretic external auditory canal; some cases of abnormal ossicles, facial nerve, and fallopian canals; some cases of hypoplastic cochlea and absent or hypoplastic semicircular canals
Craniofacial anomalies	Mandibular hypoplasia, also mandibular ramus asymmetry, maxillary and malar hypoplasia, TMJ abnormalities, micrognathia, cleft palate with or without cleft lip	Anomalies similar to GS	Malar hypoplasia is most common, mandibular and maxillary hypoplasia, micrognathia, retrognathia, cleft palate	High arched or cleft palate, deep overbite
Other musculoskeletal anomalies	Vertebral defects, may have clubbing, polydactyly, clinodactyly, camptodactyly, or single palmar crease	No vertebral defects	Vertebral defects rare	None
Additional defining anomalies				Renal dysplasia in more than 2/3 of cases, branchial fistulae (usually bilaterally in lower part of the neck)
Associated anomalies	Cardiac, renal, genital, gastrointestinal, may have some cognitive disability	Anomalies similar to GS	Cardiac, renal, cryptorchidism, airway abnormalities	Aplasia or stenosis of the lacrimal ducts