Goldenhar syndrome is a rare congenital condition characterized by abnormal development of the eye, ear and spine.
Also known as oculo-auriculo-vertebral spectrum or OAV, Goldenhar syndrome was first documented in 1952 by Maurice Goldenhar, an ophthalmologist and general practitioner.
It affects one in every 3,000-5,000 births.
Children with Goldenhar syndrome are born with partially formed or totally absent ears, benign growths of the eye, and spinal deformities such as scoliosis. Goldenhar syndrome may also affect the facial structure and other body organs such as heart, kidney, lungs and nervous system. In most cases, the deformity only affects one side of the body.
One aspect of Goldenhar syndrome is hemifacial microsomia, which means the jaw and cheekbones on one side of the face are underdeveloped. This underdevelopment, along with eye and ear anomalies, leads to distinctive facial features for children with Goldenhar syndrome.
Spine and rib cage deformities are also common with Goldenhar syndrome. In some cases, vertebrae in the spine or ribs are not fully formed, missing or are fused abnormally. About half of people with Goldenhar syndrome will have a form of congenital scoliosis. Spine anomalies lead to incomplete growth and pulmonary disorders.
The origin of Goldenhar syndrome is unknown at this time. Most cases of Goldenhar syndrome occur in families with no history of the disorder.
Rarely, Goldenhar syndrome can be inherited and follow an autosomal dominant pattern. That means if one parent has Goldenhar syndrome, each of their children has a 50 percent chance of inheriting the disorder. However, for most individuals with Goldenhar syndrome, the chance of them having a child with the disorder is very low.
SIGNS AND SYMPTOMS
Symptoms of Goldenhar syndrome can vary, but may include one or more of these features:
- Spinal abnormalities, leading to scoliosis, kyphosis or both
- Abnormal rib structure including missing or fused ribs, leading to poor growth, thoracic insufficiency and diminished lung function
- Diminished lung function due to spinal curves and abnormal growth patterns that can lead to thoracic insufficiency syndrome
- A host of craniofacial abnormalities including:
- Hemifacial microsomia, where tissues on one or both sides of the face are underdeveloped particularly in the area affecting the ear, mouth and jaw areas
- Cleft lip or cleft palate
- A wider than normal mouth; one side may be higher than the other
- Benign cysts or growths on the eyes (ocular dermoid cysts)
- Partially formed or totally absent ear (microtia)
- Hearing loss, usually in one ear; can be partial or full deafness on the affected side
- Cardiac defects
- Respiratory issues
- Kidney and urogenital issues
- Central nervous system defects
TESTING AND DIAGNOSIS
Diagnostic evaluation begins with a thorough medical history and physical examination of your child. At Children’s Hospital of Philadelphia (CHOP), clinical experts use a variety of diagnostic tests to diagnose Goldenhar syndrome and possible complications, including:
- X-rays, which produce images of bones.
- Magnetic resonance imaging(MRI), which uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs and structures within the body.
- Computed tomography (CT) scan, which uses a combination of X-rays and computer technology to produce cross-sectional images ("slices") of the body.
- Genetic testing, in which a sample of your child’s saliva is used to identify your child’s DNA.
- EOS imaging, an imaging technology that creates 3-dimensional models from two planar images. Unlike a CT scan, EOS images are taken while the child is in an upright or standing position, enabling improved diagnosis due to weight-bearing positioning.
HOMOEOPATHIC MEDICINE FOR GOLDENHAR SYNDROME
Few homoeopathic medicine which can help in management of case is:
silicea, calcarea phos, calcarea flour, baryta carb., etc