Goldenhar syndrome
Rare birth defect; incomplete development of the face on one side / From Wikipedia, the free encyclopedia
Dear Wikiwand AI, let's keep it short by simply answering these key questions:
Can you list the top facts and stats about Oculo-auriculo-vertebral spectrum?
Summarize this article for a 10 year old
Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. Common clinical manifestations include limbal dermoids, preauricular skin tags and strabismus.[1] It is associated with anomalous development of the first branchial arch and second branchial arch.[2]
Goldenhar syndrome | |
---|---|
Other names | Oculo-auriculo-vertebral spectrum (OAVS), oculo-auriculo-vertebral dysplasia (OAV), expanded spectrum of hemifacial microsomia, facioauriculovertebral dysplasia |
Female with Goldenhar syndrome, showing preauricular skin tags | |
Specialty | Medical genetics |
The term is sometimes used interchangeably with hemifacial microsomia, although this definition is usually reserved for cases without internal organ and vertebrae disruption.
It affects between 1 in 3,500 and 1 in 5,600 live births, with a male-to-female ratio of 3:2.[3]