| Incidence |
1/3,500-1/26,550 |
1/3,500-1/26,550 |
1/50,000 |
1/40,000 |
| Etiology |
Multifactorial |
Multifactorial |
Loss of TC0F1 gene function on chromosome 5 |
Most common: EYA1 gene mutation
Other: SIX1 and SIX 5 mutations |
Most common type of
hearing loss |
Conductive |
Conductive |
Conductive |
Conductive, sensorineural or mixed |
Unilateral or bilateral facial
deformity |
Usually unilateral |
Usually unilateral |
Usually bilateral |
Not applicable |
| Ocular alterations |
Epibulbar dermoids, upper eyelid colobomas, microphthalmia, anophthalmia, ptose palpebral |
Similar to Goldenhar syndrome but without epibulbar dermoids |
Lower eyelid colobomas, missing medial lower eyelashes, downward tilt of palpebral fissures, affected vision, skeletal dysmorphism of orbits. |
None |
| Auricular alterations |
Microtia, acrochordons
atresia/stenosis of the external acoustic meatus, absence of auricle, anotia, preauricular fossae/ sinuses, middle ear malformation and inner ear malformation are less common |
Similar to Goldenhar syndrome and occur in 65-99% of the patients |
Deformed external ear, microtia or anotia, stenosis or atresia of the external acoustic meatus, deformed tympanic membrane |
75-85% of cases: Preauricular fossae
Other: preauricular appendages, bat ears, microtia, atretic external auditory canal; abnormal ossicles, facial nerve and fallopian canals; hypoplastic cochlea and absent or hypoplastic semicircular canals |
| Craniofacial alterations |
Mandibular hypoplasia, mandibular ramus asymmetry, maxillary and malar hypoplasia, TMJ abnormalities, micrognathia, cleft palate with or without cleft lip |
Similar to Goldenhar syndrome |
Most common: Malar hypoplasia,
Other: mandibular and maxillary hypoplasia, micrognathia, retrognathia, cleft palate |
High arched or cleft palate, deep overbite |
| Other musculoskeletal alterations |
Vertebral defects, clubbing, polydactyly, clinodactyly, camptodactyly or single palmar fold |
No vertebral defects |
Rare vertebral defects |
None |
| Associated alterations |
Cardiac, renal, genital, gastrointestinal, may have some cognitive impairment |
Similar to Goldenhar syndrome |
Cardiac, renal, cryptorchidism, airway abnormalities |
Aplasia or stenosis of the lacrimal ducts |
| Additional alterations |
|
|
|
Renal dysplasia in more than 2/3 of cases, branchial fistulas (usually bilaterally in the lower neck) |
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