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Goldenhar's Syndrome

Hemifacial Microsomia / Goldenhar Syndrome

(also known as oculoauriculovertebral displaysia, or OAV dysplaysia)

Last Updated: August 17, 2007

What Is It Goldenhar Syndrome / Hemifacial Microsomia?

Hemifacial microsomia is a disorder where the patient’s facial features are incompletely developed on one side, resulting in eye, ear, and jaw abnormalities. When these facial abnormalities are associated with vertebral malformations in the spine and more severe involvement of the eyes, this collection of symptoms is called Goldenhar syndrome. In 85% of patients with Goldenhar syndrome, only one side of the face is affected. Because cervical spine vertebral deformities are part of the collection of symptoms, Goldenhar syndrome is sometimes called oculoauriculovertebral displaysia, or OAV dysplaysia. The syndrome was first described in 1952 by the French opthalmologist Maurice Goldenhar.

 

Symptoms

Hemifacial microsomia and Goldenhar syndrome manifests itself in degrees ranging from nearly unnoticeable to extremely severe. The classic symptoms of Hemifacial microsomia include:

  • underdevelopment of the jaw on one side (micrognathia)
  • underdeveloped cheekbone on the affected side
  • underdeveloped or deformed an outer ear (microtia)
  • a missing or undersized ear canal (congenital aural atresia)

Additional symptoms of Goldenhar syndrome include:

  • anomalies of the spine (most typically cervical vertebrae deformities)
  • a narrowing of one eye
  • a soft white or yellow nodule located in the eye (epibulbar dermoids)
  • notched eyelids

The facial manifestations of Goldenhar syndrome are similar to those of Treacher Collins syndrome, except that the majority of individuals with Goldenhar syndrome are affected on only one side of the face rather than both. Photographs of children with Goldenhar syndrome can be found at the Goldenhar Family Support web site.

Most individuals with Goldenhar syndrome or Hemifacial microsomia have a malformed outer ear, a condition called microtia. In approximately a third of cases of Goldenhar syndrome, the microtia is bilateral, that is both ears are affected. Microtia is rated on a four-point scale. In Grade 1 microtia, the ears look almost normal but are smaller than average. Grade 2 microtia is characterized by having a curved mass of tissue rather than a formed outer ear. Grade 3, which is the most common form of microtia, consists of having only small bumps of skin. Grade 4, sometimes referred to as “anotia”, consists of having no external ear at all.

Individuals with Goldenhar syndrome or Hemifacial microsomia often also have congenital aural atresia, that is, a missing ear canal. The missing ear canal results in a significant conductive hearing loss, because the bone blocks the passage of sound to the eardrum and inner ear. Furthermore, dead skin cells and earwax cannot drain out of the middle ear in the normal way, leading to severe ear infections (otitis media) and occasionally the formation of benign cysts (cholesteatomas). These infections and cysts can be severe enough to lead to permanent hearing loss.

In some cases, the ear canal is unusually narrow rather than completely closed. This is called canal stenosis. Canal stenosis also causes hearing loss and a higher propensity for developing ear infections. The presence of microtia, atresia, and canal stenosis are not in themselves indicative of Goldenhar syndrome or Hemifacial microsomia. It is possible to have these conditions without having one of these conditions.

Most individuals with Goldenhar syndrome and Hemifacial microsomia also have malformed middle ear bones (ossicles), resulting in a conductive hearing loss because sound cannot be efficiently transmitted from the eardrum to the inner ear. However, malformed ossicles can be repaired or replaced at the time the atresia repair surgery is performed.

Despite all of these conductive hearing loss issues, the majority of individuals with Goldenhar syndrome or Hemifacial microsomia have a normal inner ear, which is important because this gives hope for hearing restoration by a variety of means (see “Treatment.”)

Since many individuals with Goldenhar syndrome or Hemifacial microsomia have a hearing loss, they may appear to have a cognitive deficit. Only a minority of individuals with Goldenhar syndrome have cognitive deficits, although an estimated 13% of them have learning disabilities. Since the patient’s intelligence is likely to be normal, it is important to ensure that they have as much access to sound as possible to maximize spoken language development. Depending on the circumstances, the family may also wish to explore teaching the child sign language and introducing her to the signing deaf community.

Causes

The rate of occurance of Hemifacial microsomia and Goldenhar syndrome ranges from 1 in 3,500 to 1 in every 5,600 births. It is believed to be caused primarily by sporadic genetic mutations rather than inherited ones. It has been suggested that some cases of Goldenhar are caused by prenatal exposure to chemicals, certain medications, or too-high doses of vitamin A. The chances of an individual with Goldenhar syndrome or Hemifacial microsomia passing it on to offspring are less than 5 percent.

Diagnosis

Hemifacial microsomia and Goldenhar syndrome is usually diagnosed based on the patient’s appearance, skeletal malformations, and hearing deficits. There is no single lab test that confirms the disorder.

Treatment

Treatment of Goldenhar syndrome and Hemifacial microsomia is complex, since there are many aspects of the syndrome to manage. In addition to surgeries associated with restoring hearing, patients with Goldenhar syndrome or Hemifacial microsomia often require reconstructive surgery of the jaw and skull, specialized orthodontic treatment, and repair of cleft palates and notched eyelids.

Microtia can be corrected with reconstructive surgery. There are two common methods used to construct an outer ear. One is rib cartilage reconstruction (also called rib grafting), where the surgeon takes cartilage from the patient’s own rib cage, sculpts it into the shape of an ear, and grafts it onto the head. The advantage of this method is that the new ear is made from the patient’s own living tissue and grows along with the rest of the body. The other method is to use a synthetic ear framework using a porous polyethylene material called Medpor. The Medpor technique has the advantage of a fewer number of surgeries and can be done as early as the age of three. Of course, a non-surgical alternative is to use a prosthetic ear, though some prosthetics can be surgically anchored using a titanium abutment. Microtia repair surgery is often done when the patient is between 3 and 6 years of age, although it can be done at any later time.

Congenital aural atresia or canal stenosis can be surgically reconstructed once the skull has reached a sufficiently large size, generally between ages 3 and 8. The surgery has the goals of allowing proper drainage and enabling sound to reach the eardrum. In cases where the eardrum is absent, that too can be reconstructed. The surgeon drills through the temporal bone to reach the middle ear, and takes skin from elsewhere in the body to line the newly-formed ear canal.

Since the inner ear is rarely affected by Goldenhar syndrome or Hemifacial microsomia, hearing aids can be effective in giving the patient access to sound. In cases where the ear canal is fully reconstructed but hearing still has not been restored to within normal limits, a conventional hearing aid may be used. Another kind of hearing aid that is commonly used is a bone-conduction hearing aid, which bypasses the ear canal by vibrating against the skull behind the ear. The vibrations travel through the skull and stimulate the inner ear, enabling the brain to receive sound. A headband is necessary to press the vibrating component against the skull behind the ear.

A recently developed variant of bone-conduction hearing aids is the bone-anchored hearing appliance (BAHA), in which the vibrations are transmitted to the skull via a titanium plug surgically implanted behind the ear. (The plug is more technically called a “pedestal” or “abutment”.) A unit containing sound processing circuitry and a vibrating device is attached to the plug; its vibrations are transmitted through the plug to the inner ear. While the plug fuses with the skull after several months in a process called osseointegration, the processor is taken off for sleeping, bathing, and the like. BAHA devices can be more effective and usable than conventional bone-conduction hearing aids because the vibrations aren’t absorbed by the skin, and the patient doesn’t need to wear a headband to anchor the device.

Another device called a Vibrating Ossicular Prosthesis (VORP) may be used. This device consists of a vibrating piston surgically implanted in the middle ear that physically moves the small middle ear bones (ossicles) that normally transmit sound vibrations from the eardrum to the inner ear. An example of a middle-ear hearing aid is the Vibrant Med-El Soundbridge. This device is approved for adults in the United States, and clinical trials are underway to study the use of this device in children between the ages of five and eighteen. The California Ear Institute is part of that clinical trial (for more information, email atresiarepair@calear.com.) A fully implantable middle-ear hearing aid called the Carina is being developed by Otologics, but it is too large for pediatric use.

In case of bilateral severe to profound hearing loss, a cochlear implant may be used. A cochlear implant bypasses all of the mechanisms of the ear and stimulates the auditory nerves directly. It consists of an electrode array surgically inserted into the inner ear. Sound information is sent to it by radio from a device worn on the outer ear like a hearing aid. While cochlear implants do not fully restore hearing, they are often effective enough to allow a child to acquire spoken language normally.

Consequences of Avoiding Treatment

Severe cases of Goldenhar syndrome or Hemifacial microsomia can affect many aspects of the patient’s life and sometimes requires immediate intervention from birth. For example, the patient may suffer from severe obstructive sleep apnea due to airway abnormalities. Jaw problems may result in a restrictive diet and malnutrition, and issues with the eyelids may lead to subsequent vision problems. Without hearing assistance or surgical reconstruction, individuals with full bilateral microtia and atresia will not able to acquire normal spoken language.

Who Should Treat This?

A large team of professionals is necessary to treat all of the issues associated with Goldenhar syndrome and Hemifacial microsomia. Expert audiological treatment and ear surgery are almost always required.

The California Ear Institute is a leading global center for atresia repair. Dr. Joseph Roberson, a board certified neurotologist, has performed hundreds of successful atresia repair surgeries on children and adults from dozens of countries, including many with Goldenhar Syndrome. Dr. Roberson's atresia repair surgery is compatible with all forms of outer ear reconstruction - Medpor, Rib Graft, and Prosthetics.

 

Additional Notes

Patients searching the internet for information about Hemifacial microsomia, Goldenhar syndrome, or any other medical issue should know that generally it is the patients with the severest cases who take the time to write up their experiences for online reading. As a result, it is easy become overly alarmed and assume the worst. Patients should keep this in mind as they explore the available resources. As with all medical conditions, prompt treatment by experienced medical personnel give the best chance for a positive outcome.

 

 

 

 


 
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