An Overview of Goldenhar Syndrome

Goldenhar syndrome is a congenital condition that can change the development of a child’s face, spine, and internal organs. Sometimes Goldenhar syndrome is considered a more advanced form of two closely related conditions—hemifacial microsomia and oculo-auriculo-vertebral dysplasia—but the terminology in both research and clinical practice varies.

As the genetic basis of Goldenhar syndrome is still unknown and its associated symptoms may vary greatly, estimates of the condition’s occurrence in the general population ranges between 0.2 and 2.9 per 10,000 births. Though some medical complications of Goldenhar syndrome can affect hearing, vision, and the structure and function of the spine, jaw, kidneys, and heart, the prognosis for the vast majority of children with Goldenhar syndrome is a normal, healthy life with some medical intervention during childhood and periodic check-ups.

Symptoms

Goldenhar syndrome can cause developmental changes throughout the body. In 60–85% of children with Goldenhar syndrome, physical differences occur only on one side of the body, but they can also appear on both sides. The most common symptoms include:

• Benign cysts on or within the eye (epibulbar dermoid cysts) 
• Infection of the lacrimal sac or tear duct (dacryocystitis)
• Differences in ear or ear canal development (auricular abnormalities) 
• Bumps, indentations, or ear tags noted on or near the ear (preauricular appendages/fistula) 
• Underdevelopment and asymmetry of the jaws or cheekbones (hypoplasia)

Approximately 40% of people affected by Goldenhar syndrome are noted to have structural differences affecting the ears. The ear or ear canal may be misshaped, reduced in size, or completely missing.

Structures of the mouth may also be underdeveloped, leading to: 

• Cleft palate
• Divided tongue (bivid)
• Cleft lip
• Missing teeth, such as the molars or premolars (agenesis)
• Extra teeth
• Improperly formed teeth (irregular shape)
• Delayed tooth development

Goldenhar syndrome may also affect the development of structures associated with the eye, causing mild to severe vision problems in 60% of cases. Visual problems may include:

• Eyes or eyelids that are reduced in size
• Crossed eyes (strabismus)
• Lazy eye (amblyopia)
• Poor vision
• Light sensitivity
• Vision loss

In about 40% of people with Goldenhar syndrome, the vertebrae of the spine are affected. These deformities of the vertebrae can result in scoliosis. The ribs may also be affected.

Goldenhar syndrome can disrupt the normal development of other internal organs and body systems, particularly impacting the heart, kidneys, and lungs. Kidney problems are likely underdiagnosed and may only be identified with repeated ultrasound screening.

Causes

Though research has not yet detected one common cause underlying the development of Goldenhar syndrome, many genetic differences have been suggested as candidates. Ultimately, there may be more than one genetic cause of the symptoms associated with Goldenhar syndrome. 

Several genetic mutations that delete, duplicate, or move genetic information have been found in people with Goldenhar syndrome. Some researchers think these mutations affect genes related to cranial and facial development during the fourth week of pregnancy. This stage of pregnancy may be disrupted producing the developmental differences seen in Goldenhar syndrome. Other causes that have been proposed include abnormal blood supply to the growing embryo, diabetes in the pregnant mother, and viral infections like rubella and influenza during pregnancy.

There may also be a chemical factor contributing to some cases of Goldenhar syndrome. Some chemical compounds called teratogens may cause changes in human embryo development and can produce symptoms similar to Goldenhar syndrome. Teratogens that may be related to the development of Goldenhar syndrome include:

• Vasoactive drugs
• Thalidomide
• Tamoxifen
• High doses of vitamin A
• Hormone therapy
• Smoking
• Alcohol
• Cocaine

Diagnosis

The genetic basis for Goldenhar syndrome is not fully understood, so diagnosis is generally done by examining a child for identifiable, physical signs of Goldenhar syndrome. This means the syndrome is a clinical diagnosis made by a pediatrician or genetics specialist.

Sometimes Goldenhar syndrome is diagnosed during pregnancy via ultrasound imaging or via other 3-D imaging techniques. Concerns about a child’s development in the womb may sometimes lead to additional testing, including the possible sampling of fetal tissue for genetic testing.

In other cases, symptoms will not be apparent at birth and these may slowly appear or intensify as a child develops. Scheduled screening and imaging can be used to keep track of new developments.

Other conditions may share some symptoms with Goldenhar syndrome but have additional symptoms not found in the disorder. Importantly, they may lack symptoms that potentially affect hearing and vision. These conditions include:

• Treacher Collins syndrome
• Wolf-Hirschhorn syndrome
• Townes-Brocks syndrome
• Delleman syndrome

Treatment

Some children with mild symptoms of Goldenhar syndrome will need little to no treatment to develop normally. However, in most cases, ongoing observation and treatment of symptoms and any existing complications are beneficial to a developing child with Goldenhar syndrome. 

Symptoms affecting the skeleton may be treated continuously, only as problems arise, or after a specific developmental milestone (i.e., when a child’s bones have fully developed and the growth plates have closed). Some symptoms, like skin tags, are mainly cosmetic and may be ignored. In more severe cases, the developmental abnormalities may benefit from plastic surgery. 

It is possible for serious malformations to affect breathing or organ function. In these cases, the problems must be treated immediately. They may require ongoing monitoring and follow-up surgical procedures. In the most severe cases, treatment of Goldenhar complications at birth can be life-saving.

If Goldenhar syndrome is diagnosed during pregnancy, the affected woman may meet with a neonatologist, a doctor specializing in the medical problems of newborn babies. The specialist will review information about the child, potentially discuss the possibility of any needed surgery, and help coordinate treatment options over both the short and long term. 

Some complications of Goldenhar syndrome require surgery soon after birth. In 22% of severe cases of Goldenhar syndrome, the baby is unable to breathe normally at birth. In these cases, a surgical procedure called a tracheostomy is performed as a temporary solution. With this intervention, an opening is made at the front of the neck and a tube is inserted into the trachea to allow breathing. The tube is attached to a ventilator and the child will be monitored in the pediatric or neonatal intensive care unit (PICU or NICU).

Follow-up surgeries performed to open any blocked airways generally occur within six months of birth. The surgical approach used depends on the physical problem affecting the baby’s air passages, the most common surgeries being: 

• Turbinectomy (removal of enlarged turbinates within the nose)
• Septoplasty (straightening of the nasal septum within the nose)

Less common surgical treatments include:

• Tonsillectomy (removal of the tonsils at the back of the throat)
• Adenoidectomy (removal of the adenoids lining the passage from the nose to the throat)
• Uvulopalatopharyngoplasty (UPPP) (removal of the uvula or soft palate tissue)
• Anterior tongue reduction (reducing the size of the tongue)
• Endoscopic tracheal granuloma excision (removal of tissue narrowing the airway)

Other malformations of the mouth and jaw can also affect a baby’s ability to eat normally. These problems may require several surgical procedures, performed by either a plastic surgeon or a maxillofacial surgeon, someone who specializes in treating defects of the mouth, teeth, and jaw. The first of these surgeries usually takes place within hours of birth, and subsequent surgeries are performed over the following months.

Jaw, pharynx, and larynx malformations may also prevent or impair a child's ability to form spoken sounds. Surgery to address these problems may occur within months of birth, or until around the age of 10, depending on the structural cause and probability of disrupted speech. 

As deafness is a possible complication of Goldenhar syndrome, hearing should be tested as early as possible to allow time for the appropriate fitting of hearing aids. If hearing can be recovered quickly, it may benefit a baby’s long-term language development.

Further treatment related to skeletal malformation may help to ensure the proper development and maintenance of motor skills in young or developing children. These treatments may include the use of arm or leg braces, physical therapy, and surgery.

Developmental differences in the ribs, hands, arms, or feet may additionally be treated with braces or physical therapy to restore normal function.

When surgery is needed, it is usually performed when a child is 2 to 3 years old, or, as an abnormality becomes apparent, even into adolescence. Bones and vertebrae of the spine may be reshaped, repaired, removed, or supported with bone grafts to restore optimal posture and mobility.

Glasses and eye training may help to restore normal vision.

Coping

One of the main aims of treating Goldenhar syndrome is to ensure an optimal quality of life. It can be hard for children and their families to navigate growing up with a medical condition. Simply managing frequent check-ups and planning medical procedures can be overwhelming. The social struggles of a young child can be compounded by looking different. Even in mild cases of Goldenhar syndrome, that may not otherwise affect a child’s health, a child can benefit from cosmetic surgeries. Psychological counseling may provide necessary support to both the affected child as well as to the family.

Common issues that are usually cosmetic such as cysts on the eye and ear tags can be removed. Because cysts can recur with time, stem cell/skin graft treatment can be an effective supplemental treatment to retain the normal appearance of the eye.

Some health problems caused by birth defects may not present themselves right away, taking years to impact health. Working with a social worker or pediatrician, you can plan periodic screening to identify kidney and heart problems that may arise in your child. Generally, non-invasive ultrasound imaging will be adequate to identify any complications.

A Word From Verywell

Someone who Goldenhar syndrome may want to undergo genetic counseling when planning to start a family to understand the potential risk to any offspring. The heritability of Goldenhar syndrome varies from case to case, and it is only rarely heritable. The unclear genetic cause means that there are no tests to effectively predict heritability. Nevertheless, the family history, as documented with a genetic pedigree, may help to understand the potential hereditary pattern for Goldenhar syndrome. It may be used to understand the nature (whether recessive or dominant) of the condition and the likelihood of passing Goldenhar syndrome on to a child.