Goldenhar syndrome is a disorder that a person has from birth. It causes changes in the development of the face and spine. Most people with Goldenhar syndrome have a typical life expectancy, but it can be life threatening in some cases.
Goldenhar syndrome is part of the oculo-auriculo-vertebral (OAV) spectrum, a group of
In this article, we will explore what Goldenhar syndrome is, what causes it, and its symptoms and treatments.
Goldenhar syndrome is a condition that develops before birth. It occurs when the branchial arches — the structures that develop into the neck and head — do not form properly. This affects the growth of the eyes, ears, and spine, making one side of the body different from the other.
Between
The symptoms of Goldenhar syndrome can range from mild to severe. They may affect the:
- Eyes: A person may have benign growths, missing parts of the eyes, or vision problems.
- Ears: The ears may be small, missing, or in an unusual position. Small, benign growths may appear in front of the external ear canal. A person may also have a hearing impairment.
- Mouth: A person may have a cleft palate or an uneven tongue.
- Face: The face may be asymmetrical. A person may also have weak facial muscles, small cheekbones or temples, or a small jaw.
- Spine: A person may have scoliosis, which causes an S-shaped curve in the spine. They may also have missing, fused, or misshapen vertebrae.
- Ribs: Ribs may be missing or fused together.
Goldenhar syndrome may also cause:
- sleep apnea
- difficulty feeding in infancy
- speech difficulties
- heart problems
- an opening between the windpipe (trachea) and food pipe (esophagus)
In
Researchers have identified a wide range of chromosomal differences in people with Goldenhar syndrome. One of these is 5p15.33-pter deletion, which is the most common chromosomal difference in people with the condition.
Chromosomes are thread-like structures that contain DNA. They are present in every cell in the body. Humans usually have 23 pairs of chromosomes that contain all the information cells need to multiply and grow. A missing chromosome can affect development.
Environmental factors also influence Goldenhar syndrome. The following factors may increase a pregnant person’s risk of having a child with the condition:
- diabetes
- twin or multiple pregnancy
- hypothyroidism
- assisted reproductive techniques
- hormone therapy
- older age
- smoking
- premature birth
- celiac disease
- vaginal bleeding
- blood pressure medication
- exposure to the breast cancer drug Tamoxifen
- thalidomide exposure
Scientists are not sure why some of these factors have links with Goldenhar syndrome, but one of the main theories is that they can interrupt blood flow in the embryo or make this more likely to happen.
Some researchers have suggested that an interaction between genetic and environmental factors causes Goldenhar syndrome. This is known as epigenetics.
Doctors can use a range of tests, before and after birth, to determine whether an infant has Goldenhar syndrome.
Doctors can use an ultrasound scan to check the fetus for signs before birth. This scan shows a doctor what the fetus looks like inside the uterus and may reveal physical differences. A doctor may also use a fetal MRI scan or a fetal echocardiogram, which checks the heart.
After a baby is born, doctors may use the following methods:
- a physical examination
- breathing and feeding checks
- X-ray
- MRI scan
- CT scan
- ultrasound
- genetic tests
No single test determines whether a person has Goldenhar syndrome. Doctors diagnose the condition on the basis of the signs and symptoms a person displays.
Treating Goldenhar syndrome
People with a less severe form of the condition may only wish to have cosmetic treatment, whereas people with a more severe form of Goldenhar syndrome
A person with Goldenhar syndrome needs a multidisciplinary team to support their needs. This could include:
- an otolaryngologist, or ear, nose, and throat (ENT) specialist
- an ophthalmologist to treat problems with the eyes
- a plastic surgeon to perform any cosmetic or reconstructive surgeries
- an audiologist to treat any hearing problems
- a neurologist or neurosurgeon to treat issues with the nerves and brain
- an orthopedic surgeon to treat any spinal irregularities
- a speech and language therapist to treat any speaking and swallowing issues
- a dentist or maxillofacial surgeon to treat problems with the teeth and jaw
It is important for a person to receive rehabilitation after any surgery.
Each person with Goldenhar syndrome will have a different experience. As children or as adults, people may face some challenges that can affect their well-being.
Stigma
Children with Goldenhar syndrome can lead typical lives and often achieve the same things as other children at school. However, because others may not understand their condition, they may experience stigma or bullying. This can impact their self-image and mental health.
It is important that families and teachers take proactive steps to prevent this behavior and to ensure that the child has healthy self-esteem. They can do this by:
- offering support and encouragement
- giving genuine praise
- helping the child learn to do new things
- focusing on the child’s strengths
- avoiding harsh criticism
Financial stress
Because some people with Goldenhar syndrome need multiple treatments, it can be expensive. People can apply for financial assistance from FACES: National Craniofacial Association. The organization may be able to help with the cost of non-medical expenses, depending on a person’s financial and medical needs.
Mental health
Any chronic health condition can affect mental health. The symptoms may be severe or difficult to manage, and treatments may be disruptive or frightening. Navigating healthcare for Goldenhar syndrome may also be challenging for caregivers.
Mental health support from a counselor or therapist can help people learn healthy ways to manage their emotions. It can also help a person manage symptoms of anxiety or depression if they experience these conditions.
The outlook for Goldenhar syndrome depends on the severity of the condition and how soon a person receives treatment. Generally, most people with Goldenhar syndrome have a
Goldenhar syndrome is a congenital condition that develops in the uterus. It affects the development of the face, head, and spine. The condition can cause symptoms that range from mild to severe.
Genetic or environmental factors may cause Goldenhar syndrome.
Many people with Goldenhar syndrome have a typical life expectancy, but a person may need multiple surgeries to prevent the symptoms from causing health problems.