Goldenhar syndrome

Disease Description (Causes and Symptoms)

Goldenhar syndrome (oculo-auriculo-vertebral spectrum) is a multiple congenital malformation syndrome caused by developmental abnormalities of structures associated with the first and second branchial arches during early fetal development. The cause is mostly sporadic and multifactorial (genetic factors + environmental factors; rarely, autosomal dominant/recessive familial cases have been reported), and chromosomal testing is generally normal.

Main Features and Symptoms

• Facial asymmetry, mandibular hypoplasia (hemifacial microsomia), and zygomatic hypoplasia
• External ear malformations (microtia, external auditory canal stenosis or absence) → conductive hearing loss is common
• Ocular abnormalities (epibulbar dermoid/ocular cyst, microphthalmia, strabismus, Duane syndrome, etc.)
• Vertebral and cervical spine malformations (e.g., Klippel–Feil-like findings), and rib abnormalities
• Cleft lip and palate, swallowing difficulties, and tracheoesophageal malformations
• Possible involvement of multiple organs, including cardiac malformations (ventricular septal defect, patent ductus arteriosus, tetralogy of Fallot, etc.) and renal malformations
• Intellectual disability may be mildly associated in approximately 5–15% of cases

Epidemiology and Additional Features

• Incidence: approximately 1 in 3,000–5,000 births
• Usually unilateral (the right side is more commonly affected), with bilateral involvement in approximately 10–33% of cases
• Slightly more common in boys (approximately male:female ≈ 3:2)

Summary of Pathophysiology

• Local abnormalities of the components of the first and second branchial arches and the blood flow supplying them (vascular disruption), along with abnormalities in cell migration, impair the development of cartilage, bone, muscle, and nerves, causing various craniofacial and vertebral malformations.

Treatment Methods

Treatment is individualized by a multidisciplinary team (including pediatrics, medical genetics, otolaryngology, plastic surgery, oral and maxillofacial surgery, ophthalmology, neurology, orthopedics, cardiology/cardiothoracic surgery, nephrology, speech and physical therapy, etc.) according to the symptoms and the organs involved.

General Treatment Principles

• Hearing protection and improvement: regular hearing tests; for conductive hearing loss, hearing aids, bone-conduction hearing aids, or external/middle ear surgery when possible; rehabilitation (speech therapy)
• Treatment of ocular lesions: vision protection (glasses, contact lenses), and surgical correction when necessary (cyst removal, eyelid surgery, etc.)
• Facial skeletal reconstruction: mandibular advancement, bone grafting, and plastic surgery (including ear reconstruction), depending on the stage of growth and the patient’s condition
• Cleft lip and palate, airway, and esophageal malformations: nutritional support (gastrostomy when oral feeding is not possible) and surgical correction
• Cardiac and renal malformations: specialized medical or surgical treatment when necessary (including cardiac surgery)
• Growth and developmental support: speech therapy, physical therapy, occupational therapy, and educational support
• Regular follow-up examinations: hearing, vision, dental health, growth and development, cardiac function, renal function, etc.

Medication Treatment

• Symptomatic treatment for complications of specific conditions (infection, pain, etc.). There is no standard medication that treats the syndrome itself.

Surgical/Procedural Priorities

• Respiratory/airway and nutritional problems (in infancy) → urgent and priority correction
• The timing of hearing and vision preservation and facial reconstruction plans according to growth should be determined through multidisciplinary conferences

Precautions (During and After Treatment)

• Because anatomical abnormalities may make anesthesia and airway management difficult, an experienced anesthesia team is needed
• A multidisciplinary evaluation and functional assessment of each organ (including the heart and kidneys) are essential before surgery

Checklist Before an Outpatient Visit (Including Example Questions)

Items/Preparation in Advance

• List of currently taken medications (including dosage and administration times)
• History of previous surgeries and hospitalizations, and major test results (ultrasound, CT/MRI, echocardiography, hearing tests, etc.)
• The time symptoms began and how they have changed (e.g., whether facial asymmetry is progressing, changes in hearing, breathing or swallowing problems)
• The child’s growth and developmental records (feeding, speaking, age at walking, etc.)
• Family history (similar malformations, congenital malformations, genetic diseases, etc.)
• Vaccination and allergy information

Information That Is Helpful to Organize in Advance for the Consultation

• Copies of recent imaging (CT/MRI) or hearing and vision test results
• Photographs (front and side views) to compare facial asymmetry and ear/eye malformations

Example Symptom Records to Show the Doctor at an Outpatient Visit

• Record when swallowing difficulties began and whether coughing or aspiration occurs during meals
• If hearing loss is suspected, record changes in responses to sound stimuli (including delayed language development)

General Example Questions to Ask the Doctor

• Among this patient’s main problems (hearing/vision/airway/heart, etc.), which should be treated first?
• Which tests are recommended (hearing test, echocardiography, renal ultrasound, etc.), and how often should they be performed regularly?
• When is the appropriate time for future facial skeletal reconstruction or ear reconstruction?
• What risks are associated with surgery and anesthesia, and what special preparations are needed?
• Is genetic counseling necessary? Do you recommend screening tests for family members?

Examples of Condition-Specific Questions

• (If hearing impairment is present) Given the current level of hearing, which is more appropriate: a hearing aid or a bone-conduction hearing aid, and when is it best to begin for language development?
• (If airway/swallowing problems are present) What tests should be performed first to assess whether parenteral nutrition (gastrostomy) is needed? What are the timing, advantages, and disadvantages of surgery?

Additional Notes

• Diagnosis: Clinical findings are important, and mandibular hypoplasia, external ear abnormalities, cleft palate, and other findings may be observed on prenatal ultrasound. CT/MRI, echocardiography, renal ultrasound, hearing and vision tests, and genetic counseling are recommended for confirmation and evaluation.
• Prognosis: Overall prognosis is determined by the extent of involvement in each individual. Outcomes of major complications (airway or cardiac problems, severe hearing or vision impairment, etc.) may be improved through early diagnosis and appropriate multidisciplinary treatment.