What is the recommended management plan for a patient diagnosed with Goldenhar syndrome?

Management of Goldenhar Syndrome

Overview and Multidisciplinary Team Requirements

Goldenhar syndrome requires coordinated management by a multidisciplinary team including plastic/craniofacial surgeons, otolaryngologists, audiologists, ophthalmologists, orthodontists, geneticists, speech therapists, and cardiologists, with plastic surgery serving as the coordinating specialty. 1, 2, 3

The syndrome presents with variable severity of craniofacial, ocular, auricular, vertebral, and internal organ abnormalities, requiring individualized surgical and supportive interventions based on the specific manifestations present. 4, 5

Initial Diagnostic Evaluation

Clinical Assessment

• Craniofacial examination: Assess for hemifacial microsomia (present in 77% of cases), facial asymmetry, mandibular hypoplasia, maxillary hypoplasia, macrostomia, cleft lip/palate, and bifid tongue 4, 5
• Auricular findings: Document preauricular skin tags (90% of cases), microtia (52%), preauricular fistulas, ear asymmetry, and external auditory canal atresia 4, 5
• Ocular abnormalities: Evaluate for epibulbar dermoids (39%), microphthalmia, anophthalmia, eye asymmetry, cleft eyelid, exophthalmia, and strabismus 4, 5
• Dental evaluation: Identify malocclusion, tooth agenesis (particularly third molars and second premolars), supernumerary teeth, enamel/dentin malformations, and delayed tooth development 4

Imaging and Laboratory Studies

• Neuroradiologic imaging: MRI or CT to assess for central nervous system malformations (present in 47% of cases), including hydrocephalus and neural tube defects 5
• Vertebral imaging: Spine radiographs or CT to identify vertebral anomalies (70% of cases), including cleft spine, vertebral defects of different size and shape 4, 5
• Cardiac evaluation: Echocardiogram to detect cardiac malformations (39% of cases) 5
• Renal ultrasound: Screen for genitourinary anomalies (23% of cases) 5
• Chromosome analysis: Karyotyping should be performed in every patient with Goldenhar syndrome to identify chromosomal aberrations, particularly translocations involving chromosomes 11 and 22 5
• Audiologic testing: Comprehensive hearing assessment given high prevalence of ear abnormalities 2, 5

Surgical Management Protocol

Timing and Sequence of Procedures

Surgical interventions should begin in early childhood, with the majority of patients (57%) undergoing their first procedures in the first decade of life. 1

The surgical approach is staged based on functional and aesthetic priorities:

Primary Surgical Categories (in order of typical intervention)

1. Auricular reconstruction (20% of procedures): Address microtia, preauricular tags, and external auditory canal atresia 1
2. Mandibular reconstruction (24% of procedures): Correct mandibular hypoplasia and asymmetry using distraction osteogenesis or bone grafting 1
3. Macrostomia repair (13% of procedures): Surgical correction of lateral facial clefts 1
4. Soft tissue volume augmentation (14% of procedures): Fat grafting or other volume restoration techniques for hemifacial microsomia 1
5. Maxillary procedures (4% of procedures): Le Fort osteotomies for severe maxillary hypoplasia 1
6. Additional procedures (21%): Including cleft lip/palate repair, orbital procedures, and other corrections 1

Orthodontic Management

Orthodontic treatment should be coordinated with surgical interventions, with preoperative orthodontic preparation followed by postoperative orthodontic finishing. 4

• Begin orthodontic assessment early to plan timing of dental and skeletal corrections 4
• Address malocclusion, tooth discrepancies, and jaw asymmetry through combined orthodontic-surgical approach 4
• Long-term orthodontic follow-up is necessary as the intensification of anomalies can vary throughout the patient's life 4

Supportive and Developmental Management

Speech and Hearing Interventions

• Hearing aids: For conductive or sensorineural hearing loss secondary to ear malformations 2
• Speech therapy: Essential for patients with developmental and speech delay, cleft palate, or macrostomia 2

Ophthalmologic Care

• Regular ophthalmologic follow-up for management of epibulbar dermoids, refractive errors, and strabismus 4, 5
• Surgical removal of epibulbar dermoids if vision is compromised 4

Genetic Counseling

• Family screening is warranted, as familial cases have been documented with relatives showing neural tube defects and other anomalies 5
• Counsel regarding variable expressivity and recurrence risk 5

Long-Term Monitoring

Regular long-term follow-up by the multidisciplinary team is essential to monitor growth, development, and the evolution of anomalies throughout childhood and adolescence. 3

• Serial clinical and radiographic assessments to track craniofacial growth patterns 3
• Monitoring for development of new manifestations or progression of existing abnormalities 4
• Psychosocial support for patients and families dealing with visible facial differences 2

Key Clinical Pitfalls

• Underestimating systemic involvement: Multiple organ involvement (cardiac 39%, genitourinary 23%, CNS 47%) can limit surgical options and affect overall management 5
• Delayed chromosome analysis: Chromosomal aberrations may be present and should be identified early to guide prognosis and genetic counseling 5
• Inadequate hearing assessment: Hearing loss is common and requires early intervention to prevent speech and developmental delays 2, 5
• Isolated specialty management: The complexity of Goldenhar syndrome mandates coordinated multidisciplinary care rather than fragmented single-specialty interventions 1, 2, 3