Goldenhar Syndrome (GS) is a complicated condition that is characterized by the structural malformation of the face of babies. Read on to find out all about the symptoms, causes, diagnosis, and treatment options of the disorder.
Goldenhar Syndrome Definition
It is a congenital disorder characterized by insufficient development of various body parts including the nose, ears, lips, soft palate and mandible. This condition is associated with an abnormal development of both the first and second branchial arch. It is generally clinically manifested by preauricular skin tags, limbal dermoids and strabismus.
Maurice Goldenhar, a Belgian-American ophthalmologist, was the first person to identify this congenital disease in 1952.
Goldenhar Syndrome Incidence
At present, this condition is observed in 1 out of 3,500 births to 1 out of 26,000 births in the United Kingdom. According to various studies, the disease is found to have a higher prevalence rate in the children of veteran soldiers who fought in the Gulf War.
Goldenhar Syndrome Synonyms
This disorder is also referred to by various other names like:
- Goldenhar’s Syndrome
- Goldenhar-Gorlin Syndrome
- OAV Spectrum
- First and Second Branchial Arch Syndrome
- Facio-Auriculo-Vertebral Spectrum
- Oculo-Auriculo-Vertebral Dysplasia
Goldenhar Syndrome Causes
The exact cause of this condition is still unknown. Scientists have not yet been able to confirm whether any action of the mother during pregnancy may trigger the syndrome in her newborn child. However, researchers have not ruled out such possibilities. According to some doctors, the postures of a pregnant woman, her quality of life and some of her particular activities can hamper the development of the baby. Experts also believe that the living conditions of a woman during pregnancy and the way her family and friends treat her are also very important for the proper development of her infant. If the environment is not ideal, a child may develop this condition.
Researchers are also trying to find out whether GS is a genetic condition and its inheritance pattern (if it is actually a hereditary disorder).
Goldenhar Syndrome Signs and Symptoms
The ear is the main facial structure that is affected by this condition. Underdeveloped cheek and jaw on one side of the face is another common symptom. Some of the main symptoms of GS are:
- Mental retardation and developmental delay, which are common signs of the disorder.
- Facial asymmetry, as is commonly seen in GS patients. One side of their faces is often smaller than the other.
- Deformity of the ears. Unilateral deformity of their ears can include external meatal abnormalities, conductive deafness and preauricular cartilage tags. In some cases, the individual may even have Anotia, meaning the ear does not develop at all due to the syndrome.
- Abnormalities in vestibular development, as marked by impaired sense of orientation of the head of patients.
- Sensorineural hearing loss, which causes deafness due to an underdeveloped vestibulocochlear nerve.
- Facial deformities such as cleft palate, cleft lips, agenesis of parotid and soft palate malfunction.
- Eye manifestations, which may include malformation of the eyes or Coloboma.
- Various respiratory problems, as observed in children with GS.
- Various vertebral abnormalities such as absent ribs, vertebral Hypoplasia and short neck.
- Several cardiac defects like pulmonary Stenosis, coarctation of aorta and ventricular septal defects.
- Renal Agenesis, Ectopic Kidney, Multicystic Dysplastic Kidney, Hydronephrosis and underdeveloped or absent uterus.
- Various defects of the central nervous system (CNS), characterized by learning disabilities and Facial Nerve Palsy.
- Underdeveloped spine and spinal curvature or scoliosis, as observed in 50% children suffering from the syndrome.
Goldenhar Syndrome Prevention
There are no known ways to prevent this rare congenital condition. However, many doctors believe that a balanced and healthy diet can be helpful for preventing a birth defect such as GS. Women should avoid drinking alcohol during their pregnancy as it may hamper the development of their baby. It is important to consult a physician to maintain proper health and manage all types of diseases and infections when pregnant. This helps a woman to minimize the chances of having a baby with this syndrome.
Goldenhar Syndrome Diagnosis
Various clinical and radiographic tests are used for diagnosing this disorder. In most cases, the physical symptoms are enough to ascertain its presence. However, defects in the lung, kidney and heart are diagnosed by various tests which include CT scans, ultrasounds, X-rays and MRIs. Radiology is also used for identifying any brain damage. In some cases, however, the brain MRI can be normal even if the baby has GS.
Goldenhar Syndrome Differential Diagnosis
The differential diagnosis should aim at distinguishing the signs of GS from other disorders that give rise to similar symptoms. These include:
- Treacher Collins Syndrome
- Hemifacial Microsomia
- Romberg Disease
Goldenhar Syndrome Treatment and Surgery
The treatment for this syndrome generally begins at a very early age, covering all the affected systems and organs. Family support is very important for the treatment to succeed. The physical defects present at birth are corrected through suitable surgeries. The functioning of the organs can be improved through early surgical intervention. Know about the various treatment options used for treating this condition:
- Reconstruction and correction of the jaw alignment by a craniofacial surgeon
- Correcting the development of the teeth by an orthodontist
- Consultation with a nutritionist to manage the feeding difficulties due to impaired jaw alignment and dental problems.
- Conducting a hearing test at an early age to ascertain the level of hearing loss.
- Monitoring proper vertebral development by vertebral x-rays.
- Use of x-rays in ascertaining whether corrective braces are needed for rectifying Scoliosis.
- Identifying and monitoring heart and kidney damages by ultrasound.
- Curing blindness and other ocular problems, caused by GS by surgeries and medications.
- Speech therapy helps the affected child to overcome his or her communication problems.
- Using walker or crutches can be helpful for those with walking difficulties.
- Cosmetic and plastic surgeries can be performed for correcting facial deformities.
- Behavioral therapies are also used for improving the ability of a child to properly interact with other people.
Goldenhar Syndrome Complications
The complications of this condition include various problems in eating, breathing and hearing.
Goldenhar Syndrome Prognosis
The prognosis of the disease depends on the difficulties experienced by a patient. The various complications that occur during treatment also affect its outcome. In most cases, however, patients have positive prognosis with normal life expectancy. Proper treatment enables individuals suffering from GS to participate in all normal daily activities.
Goldenhar Syndrome Life Expectancy
Children suffering from this congenital condition usually have a long life expectancy with normal intelligence level. Various assistive devices such as eye glasses and hearing aids help sufferers live for long.
Goldenhar Syndrome Recurrence Risk
GS is a sporadic disorder, meaning it has low chances of affecting any future offspring of a couple who already have a child with the syndrome. The risk of recurrence of the disorder ranges from 2-3%. Adults with the disease have a 3% risk of passing the syndrome on to their children.
Goldenhar Syndrome Support Groups
There are many foundations and support groups which provide guidelines for the patients of GS and their families about how to fight this syndrome. These are a few support groups that you may get in touch with:
Children’s Craniofacial Association
13140 Coit Road
Dallas, Texas 75240
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, Tennessee 37401
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, New York 10605
Goldenhar’s Syndrome is a congenital defect that leads to various physical deformities by hampering the natural growth of a child. Fortunately, it is not a fatal disease. Proper and timely treatment helps patients to fight all the symptoms of GS, including deafness and blindness, to live a long and happy life.
Goldenhar Syndrome Images
Here are some pictures that display the appearance of the children who have the condition.
Picture 1 – Goldenhar Syndrome
Picture 2 – Goldenhar Syndrome Image