Everything Patients Need To Know About Goldenhar Syndrome

Prevalence Of Goldenhar Syndrome

According to the National Center for Advancing Sciences or NIH, Goldenhar syndrome is considered a rare disease. No official method has been developed or put into place to calculate an incidence or prevalence of certain rare diseases at this time. With the scarce information available regarding the prevalence of Goldenhar syndrome, it is estimated that the prevalence remains between one case for every 3,500 births and one case for every 25,000 births on a worldwide scale. It is estimated that between 300,000 and 1,300,000 individuals are affected by Goldenhar syndrome throughout the world. It is estimated that between 13,000 and 56,000 individuals are affected by Goldenhar syndrome in the United States. It is estimated that two males are diagnosed with Goldenhar syndrome for each female diagnosed with the disorder. Less information is available to evaluate the proportion of cases that affect the face unilaterally to the cases that affect both sides of the face.

Goldenhar Syndrome And Genetics

The majority of patients diagnosed with Goldenhar syndrome do not have any family history of the disorder. In exceptional cases, Goldenhar syndrome may be inherited from an individual's parents in an autosomal dominant manner. It is estimated that between one and two percent of all diagnosed Goldenhar syndrome cases are attributed to an inherited genetic abnormality. The gene or genes that cause an individual to have Goldenhar syndrome are located on one of their chromosomes not associated with their gender. Sporadic cases of Goldenhar syndrome are caused by a spontaneous abnormality present in one or more of an affected individual's genes. The exact gene(s) that cause an individual to develop this disorder before birth have not yet been identified by researchers due to its classification as a rare disease. Because the genes responsible for Goldenhar syndrome have not been pinpointed in the medical community, there is no official chromosomal or genetic test that can be used to diagnose or identify Goldenhar syndrome.