GOLDENHAR SYNDROME
Goldenhar Syndrome causes the eye, ear, and spine to grow abnormally in 1 of 3,000 to 5,000 births, Goldenhar Syndrome can also affect facial structures and other organs such as the heart, kidneys, lungs, and nervous system.
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Goldenhar Syndrome
An unusual prenatal disorder known as Goldenhar Syndrome causes the eye, ear, and spine to grow abnormally. Maurice Goldenhar, an ophthalmologist and general practitioner, initially described the condition in 1952 under the name Oculo-auricular-vertebral spectrum or OAV. The condition occurs in 1 out of every 3,000 to 5,000 births. Inborn eye growths, scoliosis-like spine abnormalities, and partly or completely missing ears are all characteristics of children with Goldenhar Syndrome. Goldenhar Syndrome can also affect facial structures and other organs such as the heart, kidneys, lungs, and nervous system.
Typically, the abnormality only affects one side of the body. Hemifacial microsomia, a condition in which the cheekbones and jaw on one side of the face are underdeveloped, is one feature of the Goldenhar syndrome. For kids with Goldenhar syndrome, this underdevelopment, together with eye and ear defects, results in unusual facial traits. With Goldenhar syndrome, abnormalities of the spine and rib cage are also typical. In rare instances, the spine’s or the ribs’ vertebrae are incomplete, absent, or have fused improperly. A kind of congenital scoliosis will exist in around 50% of individuals with Goldenhar syndrome. Abnormalities in the spine lead to imperfect growth and lung disease.
Symptoms of Goldenhar Syndrome
The intensity of Goldenhar’s symptoms varies greatly from one person to the next. The presence of facial deformities, particularly hemifacial microsomia, is the most distinguishable sign. These happen when the face’s muscles and bones on only one side are undeveloped. A cleft lip or cleft palate may also exist in people with Goldenhar. Defects in the eyes, ears, and spine are some of the syndrome’s other hallmarks. This might indicate ear tags, small ears, missing ears, small eyes, missing eyelids, growths on the ears, or even hearing loss.
In the spine, Goldenhar may result in fused or missing vertebrae, as well as inadequate vertebral development. The condition frequently results in scoliosis, or a curved spine, in its victims. There are other, less prevalent, and less obvious signs. The percentage of Goldenhar patients who have intellectual disabilities ranges from 5 to 15%. Additionally, some have anomalies in their internal organs, most often congenital heart problems. Kidney and limb defects are quite rare.
QUESTIONS AND ANSWERS
What causes Goldenhar syndrome in children?
Goldenhar syndrome refers to a result of a combination of genetic and environmental factors, but doctors do not know the exact cause. Some cases may occur sporadically due to random genetic mutations, while others may possess a familial component. Exposure to certain environmental factors during pregnancy may also suggest a possible contributing factor, but doctors do not have a specific environmental cause as of this date.
What are the common features and symptoms of Goldenhar syndrome in children?
Goldenhar syndrome can manifest with a wide range of features and symptoms, and not all affected children will exhibit the same abnormalities. Common features and symptoms may include:
- Facial Asymmetry: One of the hallmark features refers to facial asymmetry, which may include differences in the size and shape of the eyes, ears, and jaw on one side of the face.
- Ear Abnormalities: Children with Goldenhar syndrome often have ear malformations, which can range from minor anomalies to complete absence of the external ear (microtia).
- Eye Abnormalities: Ocular anomalies such as strabismus (crossed eyes), coloboma (a gap in the structure of the eye), and ptosis (drooping eyelid) can occur.
- Spinal Abnormalities: Some children may have vertebral anomalies, such as scoliosis (curvature of the spine) or fused vertebrae.
- Heart and Kidney Anomalies: In some cases, heart or kidney abnormalities may exist.
- Cleft Lip and Palate: Cleft lip and palate abnormalities may exist in some children with Goldenhar syndrome.
How do doctors diagnose and treat Goldenhar syndrome in children?
Diagnosis and management of Goldenhar syndrome typically involve the following:
- Clinical Evaluation: A healthcare provider will perform a comprehensive physical examination, including a detailed assessment of facial and ear abnormalities, as well as imaging studies to evaluate any spinal or organ involvement.
- Genetic Counseling: Genetic counseling may outline the risk of recurrence in future pregnancies and provide information about the genetic basis of the condition.
- Multidisciplinary Care: Children with Goldenhar syndrome often require care from a team of specialists, including pediatricians, geneticists, otolaryngologists, plastic surgeons, and orthopedic surgeons. Our doctors tailor treatment and interventions to the specific needs of each child and may include surgical procedures to address facial or ear abnormalities, hearing aids, and therapies to address developmental challenges.
- Supportive Care: Early intervention services, speech therapy, and psychological support may help children with Goldenhar syndrome achieve their full potential and cope with any associated challenges.
The doctors at Medical City Children’s Orthopedics and Spine Specialists only treat children. As such they have become experts in all types of inherited diseases like Goldenhar Syndrome
Causes of Goldenhar Syndrome
Goldenhar syndrome is a congenital condition, which means that newborns are born with it. A chromosomal abnormality is the root of the problem. It is usually not inherited; however, the syndrome is a hereditary issue in just 1% to 2% of instances. It is either autosomal dominant or autosomal recessive in these situations. This phrase indicates that the gene or genes responsible for it are located on a chromosome unrelated to sex. The genes might be recessive or dominant, but dominant is more often. Nobody has yet identified the precise genes that are to blame.
Diagnosing Goldenhar Syndrome
Based on visible symptoms and indicators, our doctor will identify Goldenhar syndrome. The physical examination will come first. They will next request imaging tests to support the diagnosis. Several typical imaging tests include:
- CT scan
- X-ray
- Echocardiogram
- Ultrasound
The doctor could also suggest a genetic test, depending on the specific circumstances, to rule out other disorders that might look similar.
What Medical Procedures Treat Goldenhar Syndrome?
Treatment for Goldenhar syndrome depends on the age and the signs the person is exhibiting. At various phases of development, the doctor could advise various therapies. Some children with modest Goldenhar syndrome symptoms can function normally with little to no treatment. The majority of the time, however, a developing kid with Goldenhar syndrome benefits from continued monitoring and treatment of symptoms as well as any persisting consequences. An appointment to see our doctors should occur when new skeletal symptoms or issues emerge.
Developmental abnormalities may benefit from plastic surgery in more severe cases. Serious deformities may impair breathing or organ performance. In these situations, the issues require rapid attention. They could need follow-up surgeries as well as continuous monitoring. The treatment of Goldenhar problems at delivery will save the life of the newborn in the most extreme circumstances.
Newborn Treatment
Some Goldenhar syndrome issues necessitate surgery shortly after birth. In 22 percent of severe cases of Goldenhar syndrome, the baby cannot breathe normally at birth. In such cases, a temporary solution is a surgical procedure called a tracheostomy. This procedure involves making a hole in the front of the neck and inserting a tube into the trachea to enable breathing. The doctors and staff will monitor the newborn in the pediatric or neonatal critical care unit with the tube connected to a ventilator. Follow-up surgery to open blocked airways is usually done within the first 6 months of life. The surgical approach used depends on the physical problem affecting the baby’s airway. The most common operations are:
- Turbinectomy (nose surgery to remove enlarged turbinates)
- Septoplasty
Less frequent surgical procedures include:
- Tonsillectomy (removing the tonsils from the back of the throat)
- Adenoidectomy (excision of the adenoids that line the throat’s opening in the nostril)
- Uvulopalatopharyngoplasty (UPPP) (excision of the uvula or sensitive palate tissue)
- Anterior tongue reduction (decreasing the size of the tongue)
- Endoscopic tracheal granuloma excision (removing tissue that is obstructing the airway)
The ability of a newborn to feed normally can also be impacted by other oral and jaw deformities. A plastic surgeon or a maxillofacial surgeon, who focuses on correcting deformities of the mouth, teeth, and jaw, may need to undertake a number of surgical operations to address these issues. The first of these procedures often occurs shortly after birth, with the remaining surgeries taking place over the next months. Malformations of the jaw, pharynx, and larynx can also prohibit or hinder a child’s ability to produce spoken sounds.
Surgery to treat these problems will occur within the first few months of life to about the age of 10, depending on the structural cause and the likelihood of the speech impairment. Additional treatments related to skeletal malformations help ensure proper development and maintenance of motor skills in infants or developing children. In order to restore normal function, developmental variations in the ribs, hands, arms, or feet may also be corrected using braces or physical therapy. Surgery is often performed when a kid is 2 to 3 years old, or when an anomaly becomes obvious, even into puberty. In order to regain ideal posture and mobility, the bones and vertebrae of the spine may be altered, mended, removed, or supported by bone grafts.
Hearing Problems
Deafness is a likely difficulty of Goldenhar syndrome, our doctors will conduct hearing tests as early as possible. Immediate recovery of hearing helps your baby’s long-term language development.
Follow-up Care
A pediatric orthopedic surgeon has to keep an eye on your child with Goldenhar syndrome until they are an adult. Your kid will need to visit the orthopedic surgeon again one to two weeks following the procedure, as well as three and six months later if he or she has spinal fusion surgery. Children fitted with a growth rod or VEPTR should have the device adjusted every 6 months until the child is skeletally mature. Following that, it is extremely advised to have yearly evaluations by qualified specialists to make sure that any issues are identified and addressed as soon as feasible. The fact that Goldenhar syndrome may have an impact on other body systems may also lead to doctors recommending that your kid consult a variety of experts. For instance, your kid could see:
- Orthopedic surgeon of all bone and muscle problems, especially the diagnosis and treatment of spinal instability and thoracic abnormalities
- For problems breathing, consult a pulmonologist.
- If your child has any cardiac problems, see a cardiologist.
- For any kidney or bladder concerns, consult a urologist.
- For any hearing problems, such as partial or total deafness, see an audiologist; possible treatments include hearing aids for partial deafness or cochlear implants for total hearing loss
- Speaking therapist for any concerns with nutrition or speech
- Occupational and physical therapists can help your kid improve their physical dexterity and skill.
Outlook
Most kids with Goldenhar syndrome have a fair prognosis. They can have a normal lifespan and lead comparatively typical lifestyles. They are able to get married, have kids, work, and engage in leisure activities. Due to the involvement of several body systems in Goldenhar syndrome, ongoing monitoring for problems and appropriate treatment are crucial for the best possible long-term results. Our doctors at Medical City Children’s Orthopedics and Spine Specialists, with offices in Arlington, Dallas, Flower Mound, Frisco, and McKinney, TX are ready to treat your child for this condition.
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Footnote:
Genetic and Rare Diseases Informational Center: Goldenhar Syndrome
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