The main features of this condition are a unilateral under development of one ear associated with under development 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 it is associated with other abnormalities, particularly under development of the spinal column it is referred to as Goldenhar syndrome. It is likely however, that these are two ends of the spectrum of the same condition.
Facial muscles of the affected side are also 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 unilateral deafness is extremely common. Children with the Goldenhar may also have a variety of heart and kidney problems. Most children with Goldenhar syndrome are of normal intelligence although learning difficulties can occur. These learning difficulties are secondary to language problems caused as a result of deafness. As infants because of swallowing problems, many of these babies have poor weight gain in the first year or two of life.
Causes: The origin of this syndrome is thought to be a vascular accident in the fetus during pregnancy. This accident causes the blood supply to be cut off and production of blood clots in the area of those tissues which will develop into the structures of the ear and lower jaw. Since it is not genetically linked, most cases of Goldenhar syndrome are sporadic and the risk of an effected individual to have an affected child is minimal.
Diagnosis of Goldenhar syndrome is made clinically and no DNA abnormality has been identified.
Expectations: Due to the delayed growth and development of the effected areas, the effects of this syndrome will be more evident as the child grows. The lack of the development of the upper and lower jaws can cause breathing problems as well as a dental malocclusion which will need to be addressed surgically and orthodontically
Treatment: For these patients, treatment generally requires the expertise of both a craniofacial surgeon and an orthodontist with experience with these problems. The jaw deformity is addressed as early as 3 years of age if the mandible anomaly is severe enough to cause airway difficulty. The best approach to reconstructing the jaw is determined by the surgeon and is specific for each patient. If it is needed, ear reconstruction is performed in four stages and usually begins at the age of six years. Throughout life, these patients must maintain adequate dental occlusion through ongoing orthodontic treatment.
Written By George Rogu and Yekaterina Ryzova M.D.
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