Everything Patients Need To Know About Goldenhar Syndrome

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.