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Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral/OAV syndrome) is a congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.[1]
The term is sometimes used interchangeably with Hemifacial Microsomia, although this definition is usually reserved for cases without internal organ/verterbrae disruption.
It affects between 1/3500 to 1/26000 live births in the UK.[citation needed]
The condition was documented in 1952 by Maurice Goldenhar.[2][3]
Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Additionally, there are often issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that whilst it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases).
Other problems can include scoliosis (twisting of the vertebrae), lipodermoids (fat in the eye), and hearing loss (see hearing loss with craniofacial syndromes).
Causes of Goldenhar Syndrome are unknown, and is thought in most cases to be multifactorial, there have been recent accounts of familiar patterns. It has been suggested that there is a brachial arch development issue late in the first trimester, also there is anecdotal evidence linking it to exposure to certain toxins (e.g. dioxin) before or during pregnancy.
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