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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.
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.
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).
Causes of Goldenhar Syndrome are unknown, and is thought in most cases to be multifactorial, there have been recent accounts of familial 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.
There is circumstantial evidence suggesting the incidence of GS is higher in children of Gulf War veterans (see Gulf War Syndrome), though the small numbers involved make interpretation of the data difficult.
Treatment is usually confined to such surgical intervention as may be necessary to allow the child to develop normally e.g. jaw distraction/bone grafts, occular dermoid debulking, repairing cleft palate/lip, repairing heart malformations, spinal surgery.
short stature (Aarskog-Scott syndrome, Cockayne syndrome, Cornelia de Lange Syndrome, Dubowitz syndrome, Noonan syndrome, Robinow syndrome, Silver-Russell dwarfism, Seckel syndrome, Smith-Lemli-Opitz syndrome)
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endocrine glands: Persistent thyroglossal duct - Thyroglossal cyst
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