Goldenhar Syndrome
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Goldenhar syndrome is a rare congenital defect typified by the following:
- Incomplete development of the ear, nose, soft palate, lip, and mandible (jaw bone).
- Benign growths on the eye, scoliosis, and rib cage deformities are other symptoms.
- More often than not, such incomplete development occurs on only one side of the face.
The condition was first noted by the Belgian ophthalmologist Maurice Goldenhar (1924-2001) in 1952.
In addition to the visible features, some patients with Goldenhar syndrome will have growth issues with some internal organs, especially the heart, lungs, and kidneys. In such cases, the organ will not be present on one side of the body or will be severely underdeveloped. In about 10 percent of all cases of Goldenhar syndrome, the condition is bilateral. The cause of this condition remains unknown. While a genetic component is suspected, some researchers believe that the cause is a branchial arch development issue during the later part of the first trimester.
Treatment for Goldenhar syndrome generally consists of surgery in order that the person is able to grow properly (such as jawbone grafts) or repair of damaged organs. Each case of Goldenhar syndrome is unique, requiring individualized treatment. Many individuals with Goldenhar syndrome will require glasses or hearing aids during their lifetime. Goldenhar syndrome affects one in every 3,000 to 5,000 births.