Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral (OAV) syndrome) is a rare 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. Common clinical manifestations include limbal dermoids, preauricular skin tags, and strabismus.
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.
Read more about Goldenhar Syndrome: Eponym, Symptoms, Causes, Treatment
Famous quotes containing the word syndrome:
“[T]he syndrome known as life is too diffuse to admit of palliation. For every symptom that is eased, another is made worse. The horse leech’s daughter is a closed system. Her quantum of wantum cannot vary.”
—Samuel Beckett (1906–1989)