Goldenhar syndrome

Learning objectives

Goldenhar syndrome (GS), also called oculo-auriculo-vertebral syndrome or hemifacial microsomia, is a rare disorder of craniofacial development
Congenital malformation of the first and second branchial arches, resulting in the incomplete development of the ear, nose, soft palate, lip, and mandible (usually unilateral)
It is characterized by the triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformation, and vertebral anomalies
Patients can also present with heart, kidney, and lung malformations, and central nervous system defects
Male-to-female ratio 3:2

Mandibular hypoplasia (facial asymmetry)
Eye anomalies: Microphthalmia, anophthalmia, epibulbar dermoids, and eyelid colobomas
Ear anomalies: Preauricular tags, anotia (totally absent ear), and microtia (partially formed ear)
Vertebral anomalies: Scoliosis, kyphosis, hemivertebrae, and cervical fusion
Cleft lip and/or palate
Wider than normal mouth
Hydrocephalus
Congenital heart defects in ⅓ of patients (most commonly septal and conotruncal defects, e.g., tetralogy of Fallot)
Genitourinary malformations (e.g., ectopic or fused kidneys, renal agenesis, ureteropelvic junction obstruction, or vesicoureteral reflux)
Partial or complete unilateral lung hypoplasia
Developmental delay and autism spectrum disorder in some patients

Vision problems and/or loss
Hearing loss
Feeding difficulties
Speech difficulties
Obstructive sleep apnea (OSA)
Strabismus
Pulmonary hypoplasia might increase the risk for respiratory infections, pulmonary hypertension, and pneumothorax
Severe spinal deformities might cause restrictive lung disease and further decrease pulmonary function

Eyeglasses or surgery to improve vision
Hearing aids or bone-anchored auditory implants
Feeding assistance with special bottles or nasogastric feedings
Speech therapy to increase language and communication skills
Reconstructive surgery
Surgery to correct a congenital heart defect, cleft lip or palate, obstructive sleep apnea, microtia, or spinal defect