Conditions and syndromes that can result in deafblindness

Goldenhar Syndrome.


Goldenhar Syndrome was named in 1952, when Dr Goldenhar wrote about a number of facial problems that tend to occur together. Goldenhar is quite variable with some common abnormalities. The medical terms used in Goldenhar Syndrome are:

Other problems that may occur in some but not all cases are eye defects, deafness, cleft lip or palate, and internal problems affecting the heart, limb or kidney.


A variety of terms have been used to describe this extremely variable disorder. According to medical literature, when malformations primarily involve the jaw, mouth, and ears and, in most cases, affect one side of the body (unilateral), the disorder is often referred to as Hemifacial Microsomia. If abnormalities of the vertebrae and the eyes are also present, the disorder is often called Goldenhar Syndrome. Within medical literature, the term Oculo-Auriculo-Vertebral (OAV) Spectrum is often used synonymously with Goldenhar Syndrome and Hemifacial Microsomia. However, due to the complexity and varying severity and expression of OAV Spectrum, some researchers suggest that Hemifacial Microsomia and Goldenhar Syndrome actually represent different aspects or levels of severity of OAV Spectrum. Goldenhar Syndrome is also considered a variant of Cranofacial Microsomia which is the second most common facial birth defect after cleft lip and palate.

Occurrence & Inheritance Patterns

Goldenhar is prevalent in males (70%) and affected individuals may have asymmetrical small ears and mouth with hypoplasia of the jaw, mouth and eyes (with epibular dermoids). In addition abnormalities often involve the skeletal, cardiac, central nervous and renal systems. Hearing loss varies from near normal to severe; vision defect, including diplopia of various degrees. Moderate learning disabilities may occur in about 10% of cases.

There is very little evidence to explain why Goldenhar Syndrome occurs. In most cases, Goldenhar Syndrome appears to occur randomly, with no apparent cause; nothing similar has ever happened in the family before, and there is little chance of it happening again. However, in some cases, positive family histories have been present that have suggested autosomal dominant or recessive inheritance. In addition, some researchers suggest that the disorder may be caused by the interaction of many genes, possibly in combination with environmental factors - multifactorial inheritance.

There are cases of identical twins in which only one has the syndrome, even though they received the same genetic blueprint; whilst other researchers describe examples of siblings having Goldenhar Syndrome. There are a few families with an affected person having a 50% chance of passing on the syndrome. Family history may include cleft lip or palate, unusually shaped ears, asymmetry of face, small chin, skeletal problems, eye abnormalities, internal problems or speech and dental problems.

What is known is that a baby’s face forms during the 8th-12th week of pregnancy, by several different types of tissue growing together, meeting at the same time and place to form facial features. The tissues that will become the face and jaw start out separate from the upper part of the face. In Goldenhar Syndrome, something goes wrong with this meeting. Sometimes the tissue does not seal leaving the mouth and upper jaw longer on one side; sometimes there is extra skin where tissue has sealed near the ear, or skin covers the ear opening; and sometimes the chin and jaw lines do not properly develop.


Children with Goldenhar Syndrome usually look forward to a long life and normal intelligence. Special help that may be suggested are:

Pre-natal diagnosis

Scanning may identify the condition in certain cases where facial or skeletal anomalies are present. Pre-natal screening and genetic advice may be offered for future pregnancies.

Useful Contacts

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