Goldenhar syndrome is a craniofacial
syndrome, which means that it causes certain abnormalities in the formation of
the face and head. It is considered a rare disease and a congenital one,
meaning it is present at birth. Goldenhar is present in just one out of every
3500 to 25,000 babies at birth (Medscape, 2011). Another name for Goldenhar is oculoauriculovertebral dysplasia.
In people with Goldenhar syndrome,
abnormalities appear mostly in the areas of the ears, eyes, and spine. This
condition can also affect the structure of the face, and some internal organs.
The severity of the abnormalities and symptoms varies by individual, but for
most people the prognosis is good for a normal life.
Symptoms of Goldenhar Syndrome
The symptoms of Goldenhar
and their severity are extremely variable from one individual with the syndrome
to another. The most recognizable symptom is the presence of facial
abnormalities, also called hemifacial microsomia. These occur when the bones
and muscles in the face are underdeveloped. It usually occurs on just one side
of the face. Those with Goldenhar may also have a cleft lip or cleft palate.
Other characteristics of the
syndrome include defects in the eyes, ears, and spine. This can mean cysts on
the eyes, small eyes, crossed eyes, missing eyelids, small ears, missing ears,
ear tags, or even hearing loss. In the spine, Goldenhar can cause incomplete
development of vertebrae, or fused or missing vertebrae. Many people with the
syndrome end up with scoliosis, or a curved spine, as a result.
There are also less common
symptoms and those that are less visible. Between five and 15 percent of people
with Goldenhar have some degree of mental retardation (Medscape, 2011). Some also have abnormalities in internal organs, which most commonly
include congenital heart defects. Defects affecting the kidneys and limbs are
Cause of Goldenhar Syndrome
Goldenhar Syndrome is a
congenital disease, meaning that it is present in infants when they are born.
The cause is an abnormality in a chromosome, and because the disease tends to
occur in just one person in a family, it is usually not inherited.
In rare cases, about one or
two percent, the condition can be inherited as a genetic disorder. In this case
it is either autosomal dominant or recessive (Genetics Home Reference, 2013). This means that the gene or genes causing it are
found on a non-sex chromosome. The genes can either be dominant or recessive,
but dominant is more common. No one has yet pinpointed the genes responsible.
Diagnosis of Goldenhar Syndrome
There is no genetic or
chromosomal test to identify Goldenhar Syndrome. A doctor or specialist makes a
diagnosis by examining an infant or child and identifying the symptoms of the
syndrome. When it is diagnosed, the child usually needs to have further tests,
such as hearing and vision tests. A doctor may also take an X-ray of the spine
to check for problems with vertebrae. To look for heart or kidney problems, a
doctor may order ultrasound imaging tests of those organs.
Treatments for Goldenhar Syndrome
Treatment for Goldenhar
syndrome varies greatly depending on the needs of individuals. In mild cases,
no treatment may be needed. Some children may need to work with a hearing
specialist or speech therapist for hearing issues, or may need a hearing aid.
If there are vision problems, corrective surgery or glasses may be needed.
Surgery may also be needed to correct heart or spinal defects. Children with
mental retardation may need to work with education specialists.
The facial abnormalities of
Goldenhar do not typically cause physical difficulties except for the hearing
and vision. However, some parents may choose to have cosmetic surgery to give
their child a more normal appearance or to correct a cleft lip and palate.
Outlook for Goldenhar Syndrome
The outlook for children
with Goldenhar syndrome varies, but is generally very positive. Most children
can expect to live a healthy life once treatments have been administered. The
majority can expect to have a normal lifespan and a normal level of