Goldenhar Syndrome

What is Goldenhar syndrome?

Goldenhar syndrome is a rare congenital condition characterized by abnormal development of the eye, ear and spine.

Also known as oculo-auriculo-vertebral spectrum or OAV, Goldenhar syndrome was first documented in 1952 by Maurice Goldenhar, an ophthalmologist and general practitioner.

It affects one in every 3,000-5,000 births.

Children with Goldenhar syndrome are born with partially formed or totally absent ears, benign growths of the eye, and spinal deformities such as scoliosis. Goldenhar syndrome may also affect the facial structure and other body organs such as heart, kidney, lungs and nervous system. In most cases, the deformity only affects one side of the body.

One aspect of Goldenhar syndrome is hemifacial microsomia, which means the jaw and cheekbones on one side of the face are underdeveloped. This underdevelopment, along with eye and ear anomalies, leads to distinctive facial features for children with Goldenhar syndrome.

Spine and rib cage deformities are also common with Goldenhar syndrome. In some cases, vertebrae in the spine or ribs are not fully formed, missing or are fused abnormally. About half of people with Goldenhar syndrome will have a form of congenital scoliosis. Spine anomalies lead to incomplete growth and pulmonary disorders.

Causes

The origin of Goldenhar syndrome is unknown at this time. Most cases of Goldenhar syndrome occur in families with no history of the disorder.

Rarely, Goldenhar syndrome can be inherited and follow an autosomal dominant pattern. That means if one parent has Goldenhar syndrome, each of their children has a 50 percent chance of inheriting the disorder. However, for most individuals with Goldenhar syndrome, the chance of them having a child with the disorder is very low.

Signs and symptoms

Symptoms of Goldenhar syndrome can vary, but may include one or more of these features:

  • Spinal abnormalities, leading to scoliosis, kyphosis or both
  • Abnormal rib structure including missing or fused ribs, leading to poor growth, thoracic insufficiency and diminished lung function
  • Diminished lung function due to spinal curves and abnormal growth patterns that can lead to thoracic insufficiency syndrome
  • A host of craniofacial abnormalities including:
    o Hemifacial microsomia, where tissues on one or both sides of the face are underdeveloped particularly in the area affecting the ear, mouth and jaw areas
    o Cleft lip or cleft palate
    o A wider than normal mouth; one side may be higher than the other
    o Benign cysts or growths on the eyes (ocular dermoid cysts)
    o Partially formed or totally absent ear (microtia)
  • Hearing loss, usually in one ear; can be partial or full deafness on the affected side
  • Cardiac defects
  • Respiratory issues
  • Kidney and urogenital issues
  • Central nervous system defects

Testing and diagnosis

Diagnostic evaluation begins with a thorough medical history and physical examination of your child. At Children’s Hospital of Philadelphia (CHOP), clinical experts use a variety of diagnostic tests to diagnose Goldenhar syndrome and possible complications, including:

  • X-rays, which produce images of bones.
  • Magnetic resonance imaging (MRI), which uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs and structures within the body.
  • Computed tomography (CT) scan, which uses a combination of X-rays and computer technology to produce cross-sectional images ("slices") of the body.
  • Genetic testing, in which a sample of your child’s saliva is used to identify your child’s DNA.
  • EOS imaging, an imaging technology that creates 3-dimensional models from two planar images. Unlike a CT scan, EOS images are taken while the child is in an upright or standing position, enabling improved diagnosis due to weight-bearing positioning.

Children with Goldenhar syndrome may have other health issues too, such as heart, lung or kidney problems. This is because the child’s organs may have experienced disrupted development in utero.

Therefore, an ultrasound — using high-frequency sound waves to create an image like those taken during pregnancy of the developing baby — also may be conducted on your child’s organs to detect any anomalies. Additional tests that may be needed include cardiac evaluation and hearing tests.

All of these medical tests allow clinicians to gather a full picture of your child’s medical health and help in determining an individualized care plan.

Treatments

Because Goldenhar syndrome affects several body systems, treatment for the condition varies. In some cases, careful monitoring may be all that is required. In other cases, surgery may be needed to address specific aspects of the condition.

At Children’s Hospital of Philadelphia, we practice collaborative, family-centered care. A team of expert clinicians — including leading surgeons and physicians, pediatric nurses, physical and occupational therapists, psychologists and other specialists — will partner with you in the care of your child.

Many of the complications of Goldenhar syndrome are evident at birth and can be treated while your child is young. A few examples of this are club feet, hand disorders and craniofacial anomalies. At Children’s Hospital, orthopaedic surgeons in our Leg and Foot Disorders Program, Hand and Arm Disorders Program and plastic surgeons in our Neonatal Craniofacial Program and Craniofacial Program will work with your family to create an individualized care plan for your child.

Other complications of Goldenhar syndrome may only become evident — or problematic — as your child grows. This is often true for spinal deformities, such as scoliosis, dislocated hips and joint disorders.

Depending on your child’s needs, orthopaedic specialists from our Spine Program, Hip Disorders Program or our Neuromuscular Program will treat your child. Spine surgeons need to follow changes in growth and changes in deformities of the spine and rib cage.

Every child’s condition is different, so treatment is determined on a case-by-case basis. For example, if your child has scoliosis, our team of spine specialists will consider the severity of the spinal curve, where it occurs in the spine, and your child's age and stage of growth, before determining the best course of action.

Treatment may include non-surgical options such as bracing and physical therapy, or surgical options such as spinal fusion or implanting and expanding growing rods to stabilize your child’s spine as she continues to grow. 

Because of spine curves, short trunks and respiratory issues, some children with Goldenhar syndrome will develop thoracic insufficiency syndrome, a very rare disorder characterized by spinal curves, chest wall deformity and severe respiratory issues. These children will likely need a specialized surgery to implant one or more vertical expandable prosthetic titanium ribs (VEPTR). Like growing rods, VEPTRs can be adjusted as the child grows.

Children with thoracic insufficiency syndrome will be evaluated and treated by CHOP’s Center for Thoracic Insufficiency Syndrome, the first national multidisciplinary program devoted solely to the treatment and research of thoracic insufficiency syndrome.

Though surgery for Goldenhar syndrome is highly effective, we understand that any surgery can be a stressful experience for your child and family. At CHOP, we offer a wealth of resources about how to prepare your child for surgery and what to expect during surgery.

Additionally, we employ numerous best practices before, during and after surgery to decrease the risk of infection and increase positive outcomes. For more details about safety protocols at Children's Hospital of Philadelphia, see safety in surgery.

Follow-up care

Your child with Goldenhar syndrome should continue to be monitored by an orthopaedic physician into adulthood.

If your child had spinal fusion surgery, he or she will need to see the orthopaedic surgeon about one to two weeks after surgery, then again at three and six months post-surgery. Children who have had growing rods or VEPTRs installed will need to have the devices adjusted every six months until the child reaches skeletal maturity.

After that, annual monitoring by trained clinicians is strongly encouraged to ensure any problems are spotted and treated as soon as possible.

Additionally, physicians may recommend your child see several different specialists because other body systems may be affected by Goldenhar syndrome.

For example, your child may see:

  • An orthopedist for any bone- and muscle-related issues, particularly to diagnose and manage spine instability and rib cage abnormalities
  • A pulmonologist for any breathing issues
  • A cardiologist for any heart abnormalities
  • A urologist for any kidney or bladder issues
  • An audiologist for any hearing issues, such as partial or total deafness; treatment may be hearing aids for the partial deafness or cochlear implants for complete hearing loss
  • Speech therapist for any speech or feeding related issues
  • Physical therapists and occupational therapists to expand your child’s physical dexterity and skill

During follow-up visits, X-rays and other diagnostic testing may be done. The goal of continued monitoring is to help spot any irregularities in growth or development and to address health issues as they develop.

Follow-up care and ongoing support and services are available at our Main Campus and throughout our CHOP Care Network. Our team is committed to partnering with you and referring physicians to provide the most current, comprehensive and specialized care possible for your child.

Outlook

The prognosis for most children with Goldenhar syndrome is good. They can live relatively normal lives and have a normal life span. They can get married, have children and enjoy work and recreational pursuits.

Because multiple body systems are involved in Goldenhar syndrome, continued monitoring for complications and treatment — as needed — are important to optimal long-term outcomes.

If you have questions about how your child’s condition and any related health issues may affect your child’s prognosis or long-term goals, talk to your child’s healthcare provider.

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