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Goldenhar Syndrome - Causes, Signs, Symptoms, and Management

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Goldenhar syndrome is a genetic disorder that causes distinct facial features and other physical characteristics.

Medically reviewed by

Dr. Kaushal Bhavsar

Published At January 9, 2023
Reviewed AtMarch 6, 2023


Goldenhar syndrome is an uncommon congenital condition affecting multiple body parts. There are two types of Goldenhar syndrome: primary and secondary. Primary Goldenhar syndrome occurs when no other abnormalities occur. Secondary Goldenhar syndrome is apparent along with another genetic disorder or chromosomal abnormality. Read more about the Goldenhar syndrome and how they thrive.

What Is Goldenhar Syndrome?

Goldenhar syndrome is a rare congenital condition affecting many body parts. Babies with this syndrome have abnormal facial features, including an unusually small or large head, an underdeveloped jaw, a completely or partially missing ear, and a droopy eyelid that covers the eye. Goldenhar syndrome is often found together with other health conditions such as heart defects and hearing loss.

What Are the Causes of Goldenhar Syndrome?

The exact cause of Goldenhar syndrome is unknown. Genetic mutations that occur during fetal development are thought to be the cause. Goldenhar syndrome is not inherited, but more than one family member may have it. Some children may be born with Goldenhar syndrome as a result of other complications during pregnancy. For example, if a pregnant woman develops high blood pressure, it can cause damage to the baby.

What Are the Signs and Symptoms of Goldenhar Syndrome?

Most people with Goldenhar syndrome have some combination of the following symptoms:

  • Underdeveloped or Misplaced Facial Bones - A person with Goldenhar syndrome may have a very small head, an underdeveloped jaw, or a cleft palate or lip. They may also have an ear that is completely or partially missing.

  • Abnormal Eye Movement - People with Goldenhar syndrome may have difficulty moving their eyes in a certain direction.

  • Abnormal Eyelid Shape - A person with Goldenhar syndrome may have eyelids that are very low, drooping, or very high.

  • Hearing Loss - Some people with Goldenhar syndrome may have hearing loss.

  • Cleft Palate - A cleft palate is a condition in which the roof of the mouth is either partially or completely split.

How Is Goldenhar Syndrome Diagnosed?

Given the wide range of signs and symptoms associated with Goldenhar syndrome, it is important to consult with a medical specialist, who can rule out other syndromes with similar symptoms and recommend the most appropriate treatment plan for the child’s specific needs. During the initial diagnostic process, the child’s doctor will collect information about their current health and development, including any symptoms. The doctor may also order blood tests to rule out other possible genetic conditions. Diagnosis is usually delayed, as the symptoms are very subtle, and many people with Goldenhar syndrome do not receive a diagnosis until they are two years old or older. There is no genetic test for Goldenhar syndrome since it is not inherited. But genetic testing may be done if a child with Goldenhar syndrome also has other health issues that require genetic testing.

How Is Goldenhar Syndrome Treated?

Goldenhar syndrome cannot be cured, but there are many ways to manage the symptoms and lead a fulfilling life. Treatment and interventions will vary based on the severity of the condition and the specific symptoms a person with Goldenhar syndrome is experiencing. Treatment may include surgery, assistive hearing devices, speech therapy, occupational therapy, or therapy for associated conditions.

What Are the Tips for Managing The Condition?

  • Stay positive - Accept the condition and know about the needs.

  • Stay connected with others who understand the condition. Join online communities, attend support groups, and connect with people in the local area who can relate to and share the journey.

  • Stay healthy and active - Eat a balanced diet, stay hydrated, get plenty of rest, and find ways to decrease stress.

  • Stay connected with the medical team and take good care- learn about the condition and what can be done to manage the symptoms.

  • Keep the sense of humor - Laugh often and do not take things too seriously.

  • It is not necessary to deal with it all alone.

  • Feel free to ask for help when someone needs it.

  • Feel free to reach out to others who have a similar condition.

What Is the Prognosis for a Baby With Goldenhar Syndrome?

The prognosis for individuals with Goldenhar syndrome varies. It depends on the severity of their symptoms and how each child responds to treatment. Some people with Goldenhar syndrome have only minor issues that do not affect their quality of life. Others may need more extensive treatment to correct serious facial deformities, ear problems, and other issues. Some people with Goldenhar syndrome may also have a condition called hearing loss that can be mild, moderate, or severe. Hearing loss may affect one or both ears. Some children may need hearing aids or cochlear implants to improve their hearing. Others may need sign language or other nonverbal communication methods to communicate with others.

When to See a Doctor for Goldenhar Syndrome?

If an individual or their child has any of the following symptoms, they should see a doctor:

  • Abnormalities in the shape or size of the head or face.

  • Unusual facial features include a small chin, underdeveloped cheekbones, or a notched upper lip.

  • Eye problems include drooping of the eyelids, crossed eyes, or missing or underdeveloped eye structures.

  • Hearing loss.

  • Heart defects.

  • Kidney abnormalities.

Goldenhar syndrome is rare, so not all doctors know it. It is necessary to see a doctor specializing in genetic conditions or birth defects.


Goldenhar syndrome is a rare condition that affects about one in every 5000 newborns. It can be challenging to live with, but with the right specialists and support, people who have Goldenhar syndrome can lead happy and fulfilling lives. For a child with Goldenhar syndrome or thinking that a child may have it, it is important to talk to the doctor to start any needed treatment.

Frequently Asked Questions


Does Goldenhar Syndrome Have Any Effect on the Heart?

The facial structure, as well as other bodily organs like the heart, the renal system, the lungs, and the neurological system, may be impacted by Goldenhar syndrome. The abnormality often impacts just one side of the body. In 5 % to 58 % of Goldenhar syndrome individuals, cardiovascular abnormalities have been documented. Tetralogy of Fallot (TOF) is the most frequent condition, followed by septal abnormalities and situs inversus.


Does Goldenhar Syndrome Have an Impact on Speech?

Several risk factors and multiple organs are involved in the congenital condition known as Goldenhar syndrome. Patients with Goldenhar syndrome usually have issues with hearing and speech development. Due to craniofacial deformity, people with Goldenhar syndrome have difficulty speaking.


What Feeding Issues Does Goldenhar Syndrome Cause?

Feeding difficulties, including dysphagia and choking, are one of the four major concerns in the neonatal period of infants with Goldenhar syndrome. This necessitates gavaging, nasogastric feeding, or surgical correction.


What Is the Likelihood That Goldenhar Syndrome Will Recur?

If one of the parents has Goldenhar syndrome, any one of their kids has a 50 % chance of inheriting it. Goldenhar syndrome has a two to three percent recurrence risk, meaning that in 97 to 98 % of cases, this syndrome will not develop again.


Does Goldenhar Syndrome Have Any Effect on the Brain?

Inborn eye growths, scoliosis-like spine abnormalities, and partially or completely absent ears are typical features of children with Goldenhar syndrome. Up to 15 % of Goldenhar syndrome patients have some form of intellectual disability.


Can Ultrasound Imaging Detect Goldenhar Syndrome?

In most cases, ultrasound imaging is not employed as the primary diagnostic technique for Goldenhar syndrome. During prenatal ultrasonography, the condition may be suspected. The prognosis is based on the mix of systemic abnormalities and deformities.


Is Hearing Affected by Goldenhar Syndrome?

Yes, Goldenhar syndrome can impair hearing. Goldenhar syndrome is characterized by hearing loss or ear problems. A degree of congenital hearing loss, almost invariably of a conductive nature, has frequently been linked to Goldenhar syndrome. 


What Are the Other Names for Goldenhar Syndrome?

Goldenhar syndrome (GS) is also called hemifacial microsomia or oculoauriculovertebral dysplasia. Maurice Goldenhar, a medical practitioner and ophthalmologist, described the Goldenhar syndrome for the first time in 1952.


Can Goldenhar Syndrome Be Diagnosed Genetically?

There is currently no known genetic test available for parents in order to identify Goldenhar during pregnancy or otherwise. If there is a strong suspicion that a specific genetic mutation or chromosomal aberration is contributing to the problem, genetic testing may be undertaken in some circumstances to study the underlying genetic issues. 


What Are the Dental Symptoms of Goldenhar Syndrome?

The most common dental signs of Goldenhar syndrome are cleft lip and palate, delayed tooth development, unilateral tongue hypoplasia, gingival hypertrophy, hypoplasia of the maxillary and mandibular arches, micrognathia, micrognathia, supernumerary teeth, enamel, and dentin abnormalities.


What Distinguishes Goldenhar Syndrome From Hemifacial Microsomia?

Hemifacial microsomia is a congenital condition that affects the growth of one-half of the face, generally affecting the eyes, ears, mouth, cheekbone, and jaw. When this disorder is accompanied by abnormalities such as spine deformities or eye constriction, it is known as Goldenhar syndrome, which is far more unusual.


What Distinguishes Goldenhar Syndrome From Hemifacial Microsomia?

Hemifacial microsomia is a congenital condition that affects the growth of one-half of the face, generally affecting the eyes, ears, mouth, cheekbone, and jaw. When this disorder is accompanied by abnormalities such as spine deformities or eye constriction, it is known as Goldenhar syndrome, which is far more unusual.
Dr. Kaushal Bhavsar
Dr. Kaushal Bhavsar

Pulmonology (Asthma Doctors)


goldenhar syndrome
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