Goldenhar syndrome

Definition

Goldenhar syndrome is a congenital condition that is associated with abnormalities of the head and the bones of the spinal column. The abnormalities of the head can include differences with the eyes, ears, facial bones, and mouth. These differences are extremely variable in severity. The exact cause of Goldenhar syndrome remains unknown.

Description

Goldenhar syndrome was first described by Dr. Maurice Goldenhar in 1952. Individuals with Goldenhar syndrome have physical differences that are present at birth (congenital). These abnormalities are typically limited to the head and bones of the spinal column (vertebrae) and may be severe or mild. In some cases, the changes are seen on both sides of the face (bilateral). In other cases, the changes are limited to one side of the face (unilateral).

Another name for Goldenhar syndrome is oculoauriculo-vertebral spectrum. This name describes the common birth defects seen in Goldenhar syndrome. The term oculo represents the eye, auriculo represents the ear, and vetebral stands for the physical problems present in the vertebrae.

In Goldenhar syndrome, the facial bones, including the jaw bones (mandible) and cheek bones (maxilla), can be underdeveloped (hypoplasia). This underdevelopment can be limited to one side of the face. This is called hemifacial microsomia. Hemifacial microsomia can occur alone or with Goldenhar syndrome. If an individual has hemifacial microsomia without additional birth defects, Goldenhar syndrome is unlikely. Although this is the case, hemifacial microsomia and Goldenhar syndrome are thought to have similar causes.

Genetic profile

Goldenhar syndrome is caused by a disruption of normal facial development. A baby's face forms very early, normally between the eighth and twelfth weeks of pregnancy. Normal facial development depends on many different tissues growing together. When the movement and development of these tissues is disrupted, the face may have abnormal openings, underdevelopment, and/or excess skin.

The exact cause of Goldenhar syndrome is unknown. There are most likely many factors that lead to the abnormal development of the facial tissues. In some cases the factors may be environmental. For example, there are certain medications a woman can take while pregnant that can cause the baby to have the symptoms of Goldenhar syndrome. However, in the vast majority of cases, Goldenhar syndrome is not caused by something taken during pregnancy.

In other cases, normal development of the facial tissues may be disrupted by genetic factors. The exact genetic factors are unknown. Unlike some other syndromes, there has not been a gene identified that, if changed, causes Goldenhar syndrome. A few families in which Goldenhar syndrome occurs show an autosomal recessive inheritance pattern, while other families clearly support an autosomal dominant pattern of inheritance. However, most cases of Goldenhar syndrome are not inherited, meaning that it does not normally run in families.

Goldenhar syndrome typically occurs randomly. Doctors are often unable to explain why it occurs. Since it is sporadic in nature, if a child is diagnosed with Goldenhar syndrome, the risk for the parents to have another child with Goldenhar syndrome is low. In rare cases, one parent may have some of the physical symptoms of Goldenhar syndrome. If this is the case, the risk to have a child with the disorder may be much higher.

Demographics

Goldenhar syndrome occurs in one of every 3,000 to 5,000 live births. Males are affected more frequently than females. This syndrome is seen in all ethnic groups and cultures.

Signs and symptoms

The abnormalities seen in Goldenhar syndrome are typically limited to the face and vertebrae. Thirty percent of patients have bilateral facial abnormalities. In these patients, the right side is usually affected more severely.

The symptoms associated with Goldenhar syndrome are highly variable. Some individuals with Goldenhar syndrome have many severe abnormalities, while other individuals have few minor birth defects.

Hemifacial microsomia is a common physical difference seen in Goldenhar syndrome. This is caused by hypoplasia (underdevelopment) of the bones of the face. These bones are called the mandible and the maxilla. In addition to the bones of the face, the muscles of the face can also be underdeveloped. Cleft lip and cleft palate are another facial difference associated with Goldenhar syndrome. Cleft lip is an abnormal split or opening in the lip that can extend towards the nose or towards the cheek. Cleft palate is an opening in the roof of the mouth. Individuals with Goldenhar can also have wide mouth (macrostomia).

Birth defects of the eye are common in Goldenhar syndrome. Cysts on the eyeball (epibulbar dermoids) are common, as is micropthalmia (small eye). Some individuals with Goldenhar syndrome have tissue missing from the upper eyelid (coloboma ). Strabismus (crossing of the eyes) is also prevalent.

Abnormal development of the ears is another characteristic of Goldenhar syndrome. The ears may be smaller than normal (microtia), or absent (anotia). Ear tags (excess pieces of skin) may be seen on the cheek next to the ear and may extend to the corner of the mouth. The shape of the ears may also be unusual. Hearing loss is common in individuals with Goldenhar syndrome.

The vertebral problems seen in Goldenhar syndrome result from incomplete development of the vertebrae. Vertebrae can be incompletely developed (hemivertebrae), absent, or fused. Ribs can also be abnormal. Approximately 50% of individuals with Goldenhar syndrome will have curvature of the spine (scoliosis ).

Other differences outside of the face and vertebra can occasionally be seen in Goldenhar syndrome. Approximately 15% of individuals with Goldenhar syndrome have developmental delay or mental retardation. The likelihood for mental retardation increases if the individual has micropthalmia. Heart defects and kidney defects can also occur.

Diagnosis

There is not a genetic test that can diagnose Goldenhar syndrome. The diagnosis is made when an individual has the common symptoms associated with the condition. The diagnosis is made by a physician.

Treatment and management

Once a child is diagnosed with Goldenhar syndrome, additional tests should be performed. A hearing evaluation is necessary to determine if there is hearing loss. If hearing loss is evident, the child should be referred to a hearing specialist. Speech therapy may also be helpful. X rays of the spine are recommended to determine if there are vertebral problems, and the severity. Individuals with Goldenhar syndrome should also be regularly evaluated for scoliosis. Renal ultrasounds and ultrasounds of the heart may also be recommended, due to the increased risk for birth defects in these areas. A doctor would make this recommendation. Finally, individuals with Goldenhar syndrome should be evaluated by an eye doctor (ophthalmologist).

Surgery may be required to correct the birth defects seen in Goldenhar syndrome. Surgery to correct the facial birth defects can improve appearance and function.

Prognosis

The prognosis for individuals with Goldenhar syndrome is very good. These individuals typically have a normal life span and normal intelligence.

Resources

BOOKS

Cohen, M. Michael, Robert Gorlin, and F. Clarke Fraser. "Craniofacial Disorders." In Emery and Rimoin's Principles and Practice of Medical Genetics. 3rd ed. New York: Churchill Livingstone, 1996, pp. 1132-1134.

Jones, Kenneth Lyons. "Oculo-Auriculo-Vertebral Spectrum." In Smith's Recognizable Patterns of Human Malformation. Philadelphia: W.B. Sanders, 1997, pp. 642-643.

PERIODICALS

Schaefer, G.Bradley, Ann Olney, and Peg Kolodziej. "Oculoauriculo-vertebral Spectrum." ENT—Ear, Nose & Throat Journal 77 (1998): 17-18.

ORGANIZATIONS

Alliance of Genetic Support Groups. 4301 Connecticut Ave. NW, Suite 404, Washington, DC 20008. (202) 966-5557. Fax: (202) 966-8553. <http://www.geneticalliance.org>.

Goldenhar Parent Support Network. Attn: Kayci Rush, 3619 Chicago Ave., Minneapolis, MN 55407-2603. (612) 823-3529

Goldenhar Syndrome Research & Information Fund. PO Box 61643, St. Petersburg, FL 33714. (813) 522-5772 <http://www.goldenhar.com>.

Goldenhar Syndrome Support Network 9325 163 St., Edmonton, ALB T5R 2P4. Canada <http://i.am/bbds.page>.

National Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06812-8923. (203) 746-6518 or (800) 999-6673. Fax: (203) 746-6481. <http://www.rarediseases.org>.

WEBSITES

"Oculoauriculovertebral Dysplasia." Online Mendelian Inheritance in Man.<www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164210>.

Holly Ann Ishmael, MS, CGC