Goldenhar Syndrome: Symptoms, Types, Causes and Treatment

Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS) or oculoauriculovertebral dysplasia, is a rare congenital disorder that affects the development of the face, ears, eyes, spine, and sometimes internal organs. First described by Dr. Maurice Goldenhar in 1952, this condition’s manifestations can range from subtle facial asymmetries to complex, multi-system anomalies. Understanding the symptoms, types, causes, and treatment options for Goldenhar syndrome is crucial for patients, families, and healthcare professionals alike, as it allows for tailored, multidisciplinary care and improved outcomes.

Symptoms of Goldenhar Syndrome

Goldenhar syndrome presents a wide array of symptoms, varying significantly in severity from person to person. Recognizing these signs early is essential to ensure timely intervention and support optimal development and quality of life.

Symptom	Description	Prevalence/Notes	Source(s)
Facial Asymmetry	Uneven facial features, hemifacial microsomia	Unilateral in 70-85%	2 3 6 9
Ear Anomalies	Microtia, anotia, preauricular tags	Microtia in ~50%; tags in 90%	2 3 7 9 12
Eye Abnormalities	Epibulbar dermoids, microphthalmia, coloboma	Ocular dermoids in up to 60%	2 3 7 9 11
Vertebral Defects	Scoliosis, hemivertebrae, spine anomalies	Seen in 70%	2 3 6 7 9
Oral/Craniofacial	Cleft lip/palate, micrognathia, TMJ issues	Includes malocclusion, TMJ ankylosis	5 6 11
Hearing Loss	Conductive, sensorineural, mixed	Degree varies	2 3 12
Cardiac/Organ	Heart, lung, kidney, CNS anomalies	Cardiac in 39%, CNS in 47% in one study	2 7

Table 1: Key Symptoms

Facial and Craniofacial Features

Facial asymmetry is a hallmark, often caused by hemifacial microsomia—the underdevelopment of one side of the face. This can affect the mandible, maxilla, zygomatic arch, and orbital structures. In 70–85% of cases, these anomalies are unilateral, giving the face an uneven appearance 2 3 6 9. Craniofacial features may also include cleft lip or palate, macrostomia (large mouth), micrognathia (small jaw), and, less commonly, ankylosis of the temporomandibular joint (TMJ), which can restrict jaw movement and complicate airway management 5 6 11.

Ear and Hearing Issues

Ear anomalies are prominent in Goldenhar syndrome. Microtia (underdeveloped outer ear), anotia (missing ear), and preauricular skin tags are frequent, affecting up to 90% of patients 2 3 7 9 12. Hearing loss, ranging from mild to profound, can result from malformations in the external, middle, or inner ear. Conductive hearing loss is most common, but sensorineural or mixed types may also occur 12.

Eye Abnormalities

Ocular symptoms can include epibulbar dermoids (benign growths on the eye surface), microphthalmia (small eyes), coloboma (gaps in eye structures), and eyelid anomalies. Bilateral dermoids are seen in up to 60% of patients 2 3 7 9 11. These issues can affect vision and require ophthalmologic evaluation.

Vertebral and Skeletal Abnormalities

Vertebral anomalies such as scoliosis, hemivertebrae (partial vertebrae), and spinal defects are observed in 70% of cases 2 3 6 7 9. Skull shape anomalies (microcephaly, plagiocephaly) and cleft spine may occur 11.

Oral and Dental Features

The oral cavity may show cleft palate or lip, malocclusion, tooth discrepancies, enamel and dentin malformations, and delayed tooth development 5 6 11. TMJ malformations and ankylosis can occur, impacting chewing and speech 5.

Systemic Manifestations

Beyond craniofacial and skeletal features, Goldenhar syndrome can involve heart defects (up to 39%), lung malformations, kidney anomalies, and central nervous system (CNS) abnormalities (47%) 2 7. Speech delay and developmental delays are also possible 4.

Types of Goldenhar Syndrome

Goldenhar syndrome shows a broad spectrum of presentation, making it challenging to classify. However, distinguishing types based on the range and severity of symptoms helps guide management.

Type	Defining Features	Severity/Spectrum	Source(s)
Classic/Typical	Facial, ear, eye, vertebral	Mild to moderate	2 3 7 9
Severe/Complex	Multi-system, organ involved	Pronounced craniofacial + organ	2 6 7 11
Unilateral	Symptoms on one side	70–85% of cases	2 3 6 9
Bilateral	Both sides affected	Less common, often more severe	3 10
Overlapping Syndromes	With other craniofacial anomalies	Diagnostic overlap	2 8

Table 2: Types and Presentations

Classic or Typical Goldenhar Syndrome

The classic form includes the triad of ocular (epibulbar dermoids), auricular (microtia, tags), and vertebral anomalies, sometimes called the “Goldenhar triad”. These individuals may have mild to moderate craniofacial differences and variable functional impairment 2 3 7 9.

Severe or Complex Forms

Some patients display more severe craniofacial anomalies, along with significant malformations of internal organs such as the heart, lungs, kidneys, or CNS. These cases require more extensive, long-term care and multi-specialty involvement 2 6 7 11.

Unilateral vs. Bilateral Involvement

Unilateral involvement (one side of the face/body) is much more common, accounting for the majority of cases (70–85%) 2 3 6 9. Bilateral involvement can occur and is often associated with more severe defects, especially in the craniofacial region and jaw 3 10.

Overlapping Syndromes

Goldenhar syndrome may overlap with other craniofacial conditions, such as Treacher Collins syndrome or hemifacial microsomia. Some researchers view Goldenhar as part of a spectrum of oculo-auriculo-vertebral (OAV) dysplasias, blurring the lines between distinct syndromes 2 8.

Causes of Goldenhar Syndrome

The causes of Goldenhar syndrome are complex and not fully understood. Both genetic and environmental factors contribute, making each case unique.

Cause Type	Description	Notable Factors	Source(s)
Genetic	Chromosomal anomalies, familial cases	Rare, often sporadic	2 3 6 8
Environmental	Maternal illness, drug exposure, IVF	Diabetes, rubella, drugs	7 8
Developmental	First and second branchial arch disruption	Early embryogenesis	3 6 7 9
Unknown	Unexplained in many cases	Multifactorial	3 6 7

Table 3: Causes and Risk Factors

Genetic Factors

While most cases are sporadic, some familial cases with chromosomal aberrations have been reported. Chromosome analysis has found rare translocations or deletions in a minority of patients. For example, a specific balanced translocation t(11;22) has been documented in one family 2. However, clear Mendelian inheritance is uncommon, and most cases occur without family history 2 3 6 8.

Environmental Influences

Environmental factors during pregnancy can increase the risk. Maternal diabetes, viral infections (rubella, influenza), and exposure to certain drugs (thalidomide, retinoic acid, tamoxifen, cocaine) have been associated with an increased incidence of Goldenhar syndrome 7. Assisted reproductive technologies, such as in vitro fertilization (IVF), have also been linked in some reports, possibly due to “ovopathy” or egg abnormalities 8.

Disruption of Early Embryonic Development

Goldenhar syndrome arises from abnormal development of the first and second branchial (pharyngeal) arches during early embryogenesis. This disruption leads to underdevelopment or malformation of facial bones, ears, and other structures derived from these arches 3 6 7 9.

Multifactorial and Unknown Causes

The etiology is considered multifactorial. In many instances, no clear genetic or environmental cause can be identified, highlighting the need for further research 3 6 7.

Treatment of Goldenhar Syndrome

There is no cure for Goldenhar syndrome, but an individualized, multidisciplinary approach can address symptoms, support development, and improve quality of life. Early intervention is vital.

Treatment	Purpose/Target	Notes	Source(s)
Surgical	Correct craniofacial, ear, eye, jaw	Staged, age-adapted	6 10 11 12
Hearing Aids	Address hearing loss	External or implantable	3 12
Speech Therapy	Support communication, feeding	Early and ongoing	4 6
Dental/Ortho	Correct teeth, jaw alignment	Orthodontics, prosthodontics	5 6 11
Cardiac/Organ	Manage internal organ anomalies	Pediatric specialists	2 6 7
Genetic Counseling	Family planning, recurrence risk	Recommended in all cases	2 6

Table 4: Main Treatment Strategies

Surgical Management

Surgery is central to managing Goldenhar syndrome. Procedures may include:

• Facial reconstruction (mandible, maxilla, zygoma, orbital structures)
• Repair of cleft lip/palate
• Correction of ear anomalies with reconstructive or prosthetic options
• Removal of epibulbar dermoids
• Mandibular distraction osteogenesis to address jaw asymmetry 6 10 11
• TMJ ankylosis release and airway management 5

Surgical interventions are typically staged throughout childhood to adulthood and are tailored to severity and the child’s growth 6 10 11.

Hearing Rehabilitation

Hearing loss is addressed with hearing aids (bone-anchored, external, or implantable), surgical correction of ear structures, or cochlear implants in severe cases. Early audiological assessment is critical to support language development 3 12.

Speech and Developmental Therapy

Speech therapy addresses feeding and communication difficulties, particularly for those with jaw or palate involvement and hearing loss. Early intervention optimizes outcomes 4 6.

Dental and Orthodontic Care

Patients often require orthodontic treatment for malocclusion, delayed tooth eruption, or dental anomalies. Collaboration with maxillofacial surgeons and prosthodontists is key 5 6 11.

Management of Systemic Anomalies

Specialist care may be needed for heart, kidney, lung, or CNS anomalies. Regular monitoring and timely intervention by pediatric cardiologists, nephrologists, or neurologists are essential 2 6 7.

Multidisciplinary and Individualized Approach

A team approach—including neonatologists, pediatricians, geneticists, audiologists, ophthalmologists, plastic surgeons, and speech therapists—is necessary for optimal care. Treatment is individualized and adapted to the patient’s age and the extent of involvement 2 3 4 6.

Genetic Counseling

Genetic counseling helps families understand recurrence risks and supports family planning decisions. Chromosome analysis is recommended in all patients 2 6.

Conclusion

Goldenhar syndrome is a complex, rare congenital condition that affects multiple organ systems and significantly impacts patients’ lives. Advances in multidisciplinary care have greatly improved outcomes, but early diagnosis and tailored management remain crucial.

Key takeaways from this article:

• Goldenhar syndrome presents with a broad range of symptoms, most notably affecting the face, ears, eyes, and spine.
• The condition is highly variable; types range from classic/typical to severe/complex, with most cases being unilateral.
• Causes are multifactorial, involving genetic, environmental, and developmental factors, though many cases remain unexplained.
• Treatment is individualized and multidisciplinary, focusing on surgical correction, hearing rehabilitation, developmental support, and management of systemic complications.
• Early intervention and ongoing care can significantly enhance quality of life and developmental outcomes for affected individuals.

Awareness, early recognition, and coordinated care are the cornerstones of managing Goldenhar syndrome, offering hope and support to those facing this rare but impactful disorder.