We have used a variety of sources to find out about Goldenhar Syndrome. You will see there are some discrepancies in the information provided, this is due to the unknown nature of the problems. At the moment no one has come up with a specific cause and there are a huge range of treatments depending on where you live and the specific problems that the patient has. We will update this information as time goes by, please let me know if you have any useful additional information on this subject.
Goldenhar Syndrome is an ‘umbrella’ term for a wide range of bone abnormalities affecting the face and sometimes the vertebrae. It has been proven not to be genetic.
Other names for this spectrum of problems are: Hemi-facial Microsomia; First and Second Branchial Arch syndrome; Facio-Auricular Vertebral Spectrum Oculo-Auricular Vertebral Dysplasia.
Goldenhar Syndrome was identified in 1952 by Dr. Maurice Goldenhar (hence the name), an ophthalmologist, who wrote a number of articles about facial problems that tend to occur together. Often in hospitals it is referred to as Hemifacial Microsomia (or Complex Hemifacial Microsomia).
No one yet knows why Goldenhar Syndrome happens and doctors will call it ‘sporadic’ (unknown cause). Children with Goldenhar Syndrome are usually of normal intelligence and live normal life spans. We do know that a baby’s face develops during the 8th to 12th week of pregnancy by several types of tissue growing together and meeting, at the same time, to form facial features. The tissues that become the face and jaw start separate from the upper part of the face. In Goldenhar Syndrome, something goes wrong with this meeting. It is not yet known why or how.
Some common problems:
Small, missing or misshapen ears, skin tags (usual in front of the ear), mouth opening larger on one side (Macpostoma); Underdevelopment of the muscles of the face (Hypoplasia); Spinal vertebrae fused, missing or not formed on one side (Hemivertebrae); Ribs misshapen on one side; Eyes – dermoid cyst over the eye, Anophthalmia: missing eye; Middle ear abnormalities – nearly all of the children have hearing loss on the abnormal side; Cleft lip and or palate; Breathing difficulties – some of the children with Goldenhar have required a tracheostomy soon after birth; Feeding problems – some of the children have had difficulty swallowing and required tube feeding; Internal problems such as kidney or heart (heart are less common but, occasionally, are found with this syndrome.
General comments about Goldenhar Syndrome/Hemi-facial Microsomia:
The main features of this condition are the unilateral under development of one ear (which may even not be present) associated with underdevelopment of the jaw and cheek on the same side of the face. When this is the only problem, it is normally referred to as hemi-facial microsomia, but when associated with other abnormalities, particularly of the vertebrae (hemi-vertebrae or underdeveloped vertebrae, usually in the neck) it is referred to as Goldenhar Syndrome. It is likely, however, that these are two ends of the same spectrum of the same condition. The muscles of the affected side of the face are under developed and there are often skin tags or pits in front of the ear, or in a line between the ear and the corner of the mouth.
There are often abnormalities of the middle ear and the ear canal may be completely absent and deafness (unilateral) is extremely common. There are also eye abnormalities including dermoid and notches in the lids, squints and occasionally small eyes. Children with the Goldenhar end of the spectrum may have a variety of heart problems. A variety of kidney abnormalities may also be present. There are a number of other rarer congenital abnormalities that may occur. Most individuals with Goldenhar syndrome are of normal intelligence although learning difficulties can occur in about 13 per cent of cases. These are usually language problems as a result of deafness. There may also be speech and swallowing problems.
Many babies with Goldenhar syndrome have poor weight gain in the first year or two of life. Diagnosis of Goldenhar syndrome is made clinically and no DNA abnormality has been identified. Various environmental causes have been suggested but not proven. Early identification and treatment of deafness is important and speech therapy is often necessary. Help may be required with managing feeding problems and encouraging weight gain in early infancy.
Any associated abnormalities such as the congenital heart problems may need appropriate treatment. Plastic surgeons are now able to improve the growth of the face, particularly the jaw, through the use of bone distraction techniques (this is a device which is able to artificially lengthen the jaw bone). Children with Goldenhar syndrome may also need on-going orthodontic treatment.