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PubMed This is a summary of 15 peer-reviewed journal articles Updated
Genetics

Understanding Goldenhar Syndrome (OAVS)

At a Glance

Goldenhar Syndrome, also known as Oculo-Auriculo-Vertebral Spectrum (OAVS), affects the development of the face, ears, eyes, and spine. Symptoms vary widely but commonly include facial asymmetry, underdeveloped ears, and hearing loss. Care requires a multidisciplinary medical team.

While the name may be new to you, a diagnosis of Goldenhar Syndrome simply provides a vocabulary to understand what you or your child are experiencing, and connects you to a dedicated community of specialists ready to support you.

What is Goldenhar Syndrome?

Modern medicine increasingly refers to this condition as Oculo-Auriculo-Vertebral Spectrum or OAVS [1]. This name reflects the three main areas of the body that are often involved:

  • Oculo: Related to the eyes [2].
  • Auriculo: Related to the ears [2].
  • Vertebral: Related to the bones of the spine [2].

OAVS occurs in approximately 1 in 3,500 to 1 in 5,600 live births [3][4]. It is a condition that affects how certain parts of the face and head develop during early development, specifically the branchial arches (structures in an embryo that develop into the jaw, ears, and other facial features) [5].

Understanding the “Spectrum”

You may hear doctors use the word “spectrum” frequently. In medical terms, a spectrum means that the condition affects every person differently [2].

  • No two people are identical: One individual may only have a small skin tag near their ear, while another may have more significant differences in their facial structure or internal organs [6].
  • Variable severity: Because of this wide range, OAVS can be mild or more complex, requiring different levels of care [7].

Visible Features and Characteristics

While OAVS can involve many parts of the body, the most common visible features include:

Craniofacial and Dental Features

  • Hemifacial Microsomia: This is a term for facial asymmetry, where one side of the face (often the jaw or cheekbone) is smaller or shaped differently than the other [8].
  • Mandibular Hypoplasia: An underdeveloped lower jaw, which can sometimes impact feeding or breathing [9][10].
  • Dental Anomalies: Because the jaw is affected, the teeth often are as well. This can include delayed tooth eruption or missing teeth on the affected side, making pediatric dentistry a crucial part of long-term care [11].

Ear and Hearing Features

  • Microtia: An ear that is small or underdeveloped [12].
  • Preauricular tags: Small, harmless growths of skin or cartilage located in front of the ear [12].
  • Hearing Loss: Many individuals have conductive hearing loss because the internal structures of the ear did not form completely [1].

Eye Features

  • Epibulbar Dermoids: These are small, benign (non-cancerous) growths that can appear on the surface of the eye [1][12].
  • Colobomas: A “gap” or notch in the eyelid or other eye structures [2].

Distinguishing Goldenhar from Other Conditions

You may also hear the term Craniofacial Microsomia (CFM). Doctors generally use “Goldenhar Syndrome” to describe OAVS when an individual has additional features beyond just facial asymmetry, such as eye growths (dermoids) or issues with the bones in the spine (vertebral anomalies) [13][14].

Because OAVS can occasionally involve internal organs like the heart or kidneys, a comprehensive initial evaluation is the standard of care to ensure you or your child receives the right support from the start [1][15].

Moving Forward

Because OAVS is so variable, care will be highly individualized. Most families work with a multidisciplinary team—a group of different specialists, such as geneticists, surgeons, dentists, and hearing experts, who coordinate to provide the best care for your unique needs [11][1].

Common questions in this guide

What is the difference between Goldenhar Syndrome and OAVS?
Modern medicine increasingly uses OAVS (Oculo-Auriculo-Vertebral Spectrum) as the umbrella term for this condition. Goldenhar Syndrome is typically the name used when an individual has specific features like eye growths or spinal bone differences in addition to facial asymmetry.
What are the most common visible signs of Goldenhar Syndrome?
Common visible features include facial asymmetry where one side of the jaw is smaller, underdeveloped ears, small skin tags near the ear, and benign growths on the surface of the eye. Because it is a spectrum disorder, these features vary widely from person to person.
Does Goldenhar Syndrome cause hearing loss?
Yes, many individuals with the condition experience conductive hearing loss. This occurs because the internal structures of the ear do not form completely during early fetal development.
What kind of doctors will my child need to see for OAVS?
Because OAVS affects multiple areas of the body, care usually requires a multidisciplinary team. This team often includes geneticists, ear-nose-and-throat (ENT) specialists, plastic surgeons, and pediatric dentists who coordinate treatment based on individual needs.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Has a formal hearing test been performed to check for conductive hearing loss?
  2. 2.Are there specific facial asymmetries that are likely to affect feeding, speech, or breathing?
  3. 3.Which specialists (e.g., genetics, ENT, plastic surgery, pediatric dentistry) should be on the multidisciplinary care team?
  4. 4.Are there 'epibulbar dermoids' or other eye findings that need monitoring?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (15)
  1. 1

    Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.

    Güleray N, Koşukcu C, Oğuz S, et al.

    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2022; (59(9)):1114-1124 doi:10.1177/10556656211038115.

    PMID: 34410171
  2. 2

    Oculo-auriculo-vertebral spectrum with radial defects, a bifid condyle and taurodontism: A case report.

    Desai V

    Dental and medical problems 2019; (56(4)):427-431 doi:10.17219/dmp/110234.

    PMID: 31689014
  3. 3

    Goldenhar Syndrome Complicated by Hemifacial Microsomia and Unilateral Cleft Palate Absence.

    Chen H, Shen W

    The Journal of craniofacial surgery 2024; doi:10.1097/SCS.0000000000010555.

    PMID: 39287405
  4. 4

    Multicorrection Goldenhar syndrome (facio-auriculo-vertebral dysplasia): a rare follow-up case of 12-year-old female.

    Varma AR, Meshram RJ, Varma AR, et al.

    The Pan African medical journal 2021; (39()):96 doi:10.11604/pamj.2021.39.96.27259.

    PMID: 34466198
  5. 5

    Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.

    Adam AP, Curry CJ, Hall JG, et al.

    American journal of medical genetics. Part A 2020; (182(11)):2646-2661 doi:10.1002/ajmg.a.61847.

    PMID: 32924308
  6. 6

    Late Recognition of a Case of Oculo-Auriculo-Vertebral Spectrum.

    El Mansoury J, Mbekeani JN

    Optometry and vision science : official publication of the American Academy of Optometry 2016; (93(11)):1449-1453 doi:10.1097/OPX.0000000000001002.

    PMID: 27755235
  7. 7

    A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report.

    Balaban İ, Bilgici MC, Baysal K

    BMC pediatrics 2022; (22(1)):102 doi:10.1186/s12887-022-03137-0.

    PMID: 35189859
  8. 8

    Three-dimensional CT evaluation of oculoauriculovertebral spectrum patients use of Katsumata's asymmetry index.

    Hofmann E, Schmid M, Steinhäuser-Andresen S, Hirschfelder U

    Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie 2016; (77(3)):176-84 doi:10.1007/s00056-016-0022-8.

    PMID: 27103014
  9. 9

    Orthognathic Surgery of Goldenhar Syndrome Patient With Absent Bilateral Mental Foramina.

    Kim J, Yang H, Chung JH

    The Journal of craniofacial surgery 2025; doi:10.1097/SCS.0000000000011453.

    PMID: 40305773
  10. 10

    Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement.

    Davide B, Renzo M, Sara G, et al.

    Neuroradiology 2017; (59(3)):305-316 doi:10.1007/s00234-017-1795-1.

    PMID: 28251330
  11. 11

    Goldenhar syndrome: current perspectives.

    Bogusiak K, Puch A, Arkuszewski P

    World journal of pediatrics : WJP 2017; (13(5)):405-415 doi:10.1007/s12519-017-0048-z.

    PMID: 28623555
  12. 12

    The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.

    Estandia-Ortega B, Reyna-Fabián ME, Velázquez-Aragón JA, et al.

    Life (Basel, Switzerland) 2022; (12(11)) doi:10.3390/life12111723.

    PMID: 36362878
  13. 13

    Distinguishing Goldenhar Syndrome from Craniofacial Microsomia.

    Tuin J, Tahiri Y, Paliga JT, et al.

    The Journal of craniofacial surgery 2015; (26(6)):1887-92 doi:10.1097/SCS.0000000000002017.

    PMID: 26267577
  14. 14

    Goldenhar syndrome (oculo-auriculo-vertebral spectrum): Findings on cone beam computed tomography-3 case reports.

    Maryanchik I, Nair MK

    Oral surgery, oral medicine, oral pathology and oral radiology 2018; (126(4)):e233-e239 doi:10.1016/j.oooo.2018.04.009.

    PMID: 29857980
  15. 15

    Complex Presentation of Goldenhar Syndrome in a Preterm Neonate: A Case Report.

    Saini V, Sharma H, Cherukuri AMK, et al.

    Cureus 2024; (16(7)):e63624 doi:10.7759/cureus.63624.

    PMID: 39092402

This page provides a general overview of Goldenhar Syndrome (OAVS) for educational purposes only. Always consult your multidisciplinary healthcare team for accurate medical advice, diagnosis, and personalized treatment planning.

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