Learn About Goldenhar Disease

What is the definition of Goldenhar Disease?
Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine. The main sign and symptoms are facial asymmetry (one side of the face is different from the other), a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenhar disease may also affect the heart, lungs, kidneys, and central nervous system. It is due to problems that occur when the fetus is forming within the womb of the mother, in structures known as the first and second brachial arch. These structures will develop to form the neck and the head. The cause is still unknown. Goldenhar syndrome is part of a group of conditions known as craniofacial microsomia. It is not known whether the conditions included in the group really are different conditions or part of the same problem with different degrees of severity. Treatment is age-dependent, with interventions at appropriate stages during the growth and development of the skull and face.
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What are the alternative names for Goldenhar Disease?
  • Goldenhar syndrome
  • Facioauriculovertebral sequence
  • FAv sequence
  • Expanded spectrum of hemifacial microsomia
  • Facioauriculovertebral dysplasia
  • OAV dysplasia
  • OAVS
  • Oculoauriculovertebral dysplasia
  • Oculoauriculovertebral syndrome
  • Expanded spectrum hemifacial microsomia
What are the causes of Goldenhar Disease?
The underlying cause of Goldenhar disease is poorly understood. Most cases occur sporadically with no apparent explanation. Some researchers suspect that problems with blood flow or other disruptions during fetal development may contribute to the development of the condition. Approximately 1-2% of affected people have other family members with the condition, which suggests that genes may play a role in some cases.
What are the symptoms of Goldenhar Disease?
The signs and symptoms of Goldenhar disease vary significantly from person to person. Common signs and symptoms of the condition include:
  • Microtia (a partially formed or completely absent ear) and other ear abnormalities
  • Underdeveloped facial muscles which may be associated with weakness
  • Underdeveloped jaw, cheekbone and/or temple bone
  • Cleft lip and/or palate
  • Abnormalities of the eyes, such as anophthalmia/microphthalmia, epibulbar tumors (noncancerous growths in the eyes), retinal abnormalities, and vision loss
  • An unusually large or small mouth
  • Dental abnormalities
In most cases, only one side of the face is affected, although approximately 10-33% of people with the condition have bilateral (both sides) involvement. Some people with Goldenhar syndrome may also experience hearing loss; hydrocephalus (with or without intellectual disability); heart, kidneys, and lung problems; spinal abnormalities; and/or limb malformations.
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Is Goldenhar Disease an inherited disorder?
Most cases of Goldenhar disease occur sporadically in people with no family history of the condition. Rarely (approximately 1-2% of affected people), more than one family member can be affected. In these cases, the condition appears to be passed down through the family in an autosomal dominant manner.
Who are the top Goldenhar Disease Local Doctors?
CH
Dr. Carrie L. Heike
Pediatrics
Elite
Highly rated in
12
conditions
Pediatrics

Seattle Childrens Hospital

Seattle, WA 

Carrie Heike is a Pediatrics doctor in Seattle, Washington. Dr. Heike is rated as an Elite doctor by MediFind in the treatment of Goldenhar Disease. She is also highly rated in 12 other conditions, according to our data. Her top areas of expertise are Goldenhar Disease, Acrofrontofacionasal Dysostosis Syndrome, Acrofacial Dysostosis Rodriguez Type, and Treacher Collins Syndrome. She is licensed to treat patients in Washington. Dr. Heike is currently accepting new patients.

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CC
Cornelia M. Caron
Elite
Highly rated in
5
conditions

Sophia's Children's Hospital Rotterdam

Rotterdam, ZH, NL 

Cornelia Caron is in Rotterdam, Netherlands. Caron is rated as an Elite expert by MediFind in the treatment of Goldenhar Disease. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Treacher Collins Syndrome, Goldenhar Disease, Acrofrontofacionasal Dysostosis Syndrome, and Acrofacial Dysostosis Rodriguez Type.

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Dr. A F. Drake
Otolaryngology
Elite
Highly rated in
6
conditions
Otolaryngology

UNC Ear, Nose And Throat

Chapel Hill, NC 

A Drake is an Otolaryngologist in Chapel Hill, North Carolina. Dr. Drake has been practicing medicine for over 31 years and is rated as an Elite doctor by MediFind in the treatment of Goldenhar Disease. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Goldenhar Disease, Acrofrontofacionasal Dysostosis Syndrome, Acrofacial Dysostosis Rodriguez Type, and Treacher Collins Syndrome. She is board certified in Otolaryngology and licensed to treat patients in North Carolina. Dr. Drake is currently accepting new patients.

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What are the latest Goldenhar Disease Clinical Trials?
Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology
Status: Recruiting
Start Date: February 23, 2018
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Summary: The CAUSE study is a multicenter study, with domestic (n=4) and international (n=6) study sites. Children and young adults (ages 0-18) who have microtia and/or craniofacial microsomia and their parents are invited to participate. Children and parents are asked to provide a DNA sample (blood or saliva) and are asked to upload a few photos of their face. Parents are asked a short interview. Particip...
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Clinical Evaluation of Biomet Microfixation Devices Used in Facial & Mandibular Surgical Procedures. Facial Plating System, HTR PEKK (Midface) and Mandibular Plates: A Post Market Clinical Follow-up Study
Status: Recruiting
Start Date: October 1, 2021
Intervention Type: Device
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Summary: This study will address medical devices manufactured by Biomet Microfixation (d.b.a. Zimmer Biomet) designed for fixation and stabilization of the facial and mandibular skeleton.
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What are the Latest Advances for Goldenhar Disease?
Velopharyngeal Insufficiency in Craniofacial Microsomia: Prevalence, Diagnosis, and Treatment.
Condition: Velopharyngeal Insufficiency (VPI) in Craniofacial Microsomia (CFM)
Journal: The Journal of craniofacial surgery
Treatment Used: Speech Therapy, Nasoendoscopy, and Corrective Surgery
Number of Patients: 68
Published: November 02, 2021
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Summary: This article discusses treatment for velopharyngeal insufficiency (VPI) in patients with craniofacial microsomia (CFM).
Parental Reports of Intervention Services and Prevalence of Teasing in a Multinational Craniofacial Microsomia Pediatric Study.
Journal: The Journal of craniofacial surgery
Published: November 02, 2021
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Summary: Parental Reports of Intervention Services and Prevalence of Teasing in a Multinational Craniofacial Microsomia Pediatric Study.
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Manejo multidisciplinario con terapia de electroestimulación en un paciente con síndrome de Goldenhar, trastorno de la deglución y falla para crecer.
Condition: Oculoauriculovertebral Syndrome
Journal: Boletin medico del Hospital Infantil de Mexico
Treatment Used: Rehabilitation Therapy with Conventional Therapy and Anatomical Correction
Number of Patients: 1
Published: August 05, 2021
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Summary: This article reviewed the case of a newborn with oculoauriculovertebral syndrome (incomplete development of the ear, nose, soft palate, lip and mandible usually on one side of the body) treated with rehabilitation therapy, conventional therapy, and anatomical correction.
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