What is Goldenhar Syndrome?
Present at birth, Goldenhar syndrome typically affects the head, face, and spine. Symptoms vary greatly and may be mild or severe. Goldenhar syndrome occurs with a frequency of one in every 3,000-5,000 live births. Males are affected more frequently than females.
Goldenhar syndrome was named for American ophthalmologist and general practitioner, Maurice Goldenhar (1924-2001). He came to the United States from Belgium in 1940 and returned to Europe after World War II for additional medical studies, later returning to America. In 1952, he first diagnosed what became known as Goldenhar syndrome.
Goldenhar syndrome is also known as oculoauicular dysplasia, oculoauriculo-vertebral spectrum or OAV.
Goldenhar syndrome is a variant of hemifacial microsomia, with the additional presence of benign eyeball or eyelid tumors. Hemifacial microsomia can occur alone or with Goldenhar syndrome. Usually, Goldenhar syndrome affects one side of the face, but can affect both sides, usually impacting the right side more severely.
Goldenhar Syndrome Characteristics
Individuals with this syndrome are typically characterized by the following differences:
• underdeveloped facial muscles
• underdeveloped cheekbones
• eye problems may include: small openings, benign growths, missing upper eyelid tissue, and crossed eyes
• “flat,” larger than normal upper jaw
• extremely small lower jaw
• small, malformed, and/or absent ears and/or ear canals
• underdeveloped, absent or fused vertebrae
• underdeveloped organs or heart, kidney, and lung defects
Additional characteristics that may be present include:
• cleft lip and/or palate
• a missing eye
• hearing, vision and breathing problems
• fusion of the bones of the neck
• curvature of the spine (scoliosis)
• abnormal ribs
What is the Cause of Goldenhar Syndrome?
The exact cause of Goldenhar syndrome is unknown.
It may occur because an embryonic blood vessel in the baby’s developing face accidentally burst, creating two growth-related problems – a notable slow-down in the blood flow to either one or both sides of the baby’s developing face, preventing those structures from growing at a normal rate; and formation of a group of blood clots, which interfere with growth as well.
Because it is not genetically linked, most cases are sporadic and the risk of an individual with Goldenhar syndrome to have a child with Goldenhar syndrome is minimal – as are the chances of parents who have a child with Goldenhar syndrome to have another child with this same syndrome. There does not seem to be a connection between anything the mother did (or didn’t do) to cause her baby to have Goldenhar syndrome. In some cases, environmental factors may play a role. Although the evidence is circumstantial, Goldenhar syndrome seems to have a higher incidence among offspring of veterans who participated in the Gulf War.
Goldenhar Syndrome Treatment
When a child is born with a craniofacial issues, we evaluate many factors in order to develop the most effective treatment plan. We study how the child’s underlying structures and functions are affected, including: the brain and facial skeleton, the central nervous system, the senses and parts of the spine (cervical vertebrae). In patients whose facial skeleton is affected, we carefully identify resulting changes in the soft tissues of the face, mouth and top of throat (pharynx). It’s imperative to quickly determine how their condition is affecting normal, critical functions such as breathing, swallowing and speaking, so that we can promptly begin appropriate treatment.
In most syndromes, the abnormal growth patterns continue throughout the growing years because they were programmed into the body while the embryo was forming. In order to correct and repair the child’s areas of concern, we evaluate the anatomical and functional problems and carry the treatment plan out in stages. At each new level of maturity, we’ll take advantage of the natural windows of opportunity for reconstruction and other surgical procedures.
We must time each intervention carefully, because when we change or correct part of a child’s body, that surgery indirectly affects the body’s growth and development “messages.” Our broad range of experience allows us to not only identify the most appropriate timing for repairs but to also respond to unpredictable changes as we go.
Essential factors will lead to the best outcome: For our part, accurate diagnosis and a customized, expertly carried-out treatment plan are primary concerns. This applies to reconstructive surgery, as well as aesthetic surgery, to create the very best facial and corporal appearance. For your part, as the parent/family, the outcome depends on your commitment to play the key support role throughout the child’s various surgeries, physical changes, social adaptations, academic development and everyday life skills.
In all syndrome conditions, our treatment goals fall into similar categories – to give the child’s brain and all sensory organs room to grow and develop, and to make it as easy as possible for the child to breathe, eat, sleep, communicate and become as independent as possible.
Treatment may include grafting to correct the cheek bones, jaw surgery, eye surgery, ear reconstruction, staged orthodontics, palatal closure, speech therapy and hearing aids.