Goldenhar Syndrome · What It Is, Causes, Signs and Symptoms, Treatment, and More

The underlying causes of Goldenhar syndrome are poorly understood, but it is hypothesized that they are multifactorial, involving both genetic and environmental factors that interfere with the development of the first and second pharyngeal arches (i.e., embryological structures developed at the fourth week of gestation that ultimately make up neural, muscular, and skeletal structures). In most cases, Goldenhar syndrome is sporadic, meaning that it is not inherited from parents, but arises from a new mutation. There have been several cases with a shared family history, suggestive of both autosomal dominant (i.e., requiring one copy of the mutated gene to cause disease) and autosomal recessive (i.e., requiring two copies of the mutated gene to cause disease) inheritance.  

Other studies have demonstrated associations between Goldenhar syndrome and certain medication exposures, including retinoic acid, a type of acne medication that is teratogenic, and tamoxifen, a chemotherapy medication for breast cancer; and medical conditions, such as diabetes mellitus during pregnancy (i.e., gestational diabetes). Goldenhar syndrome affects genetic males and genetic females in an approximate 3:2 ratio and the estimated incidence ranges widely from 1 in 3,000 to 40,000 live births. 

Signs and symptoms of Goldenhar syndrome include congenital birth defects that may not be apparent until the child grows older, approximately 4 to 5 years of age. People with Goldenhar syndrome may have craniofacial abnormalities such as cleft palate and cleft lip (i.e., roof of mouth and lips are not properly joined together, respectively); and may develop sleep apnea (i.e., a sleep disorder in which breathing repeatedly stops and starts during sleep); dental abnormalities (e.g., delayed tooth eruption); external ear abnormalities (e.g., low lying ear, narrow ear canal); and rarely, inner ear involvement (e.g., bony abnormalities resulting in conductive hearing issues and hearing loss). Individuals may also have vertebral or central nervous system anomalies such as scoliosis (e.g., abnormally curved spine) or Arnold-Chiari malformation (i.e., a malformation where the brain pushes down into the spinal canal).   

Other systemic abnormalities include congenital heart defects (e.g., atrioventricular septal defects, which is an abnormal opening between chambers of the heart) and kidney anomalies (e.g., renal agenesis, which is a complete absence of one/both kidneys).