GOLDENHAR SYNDROME Meaning and
Definition
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Goldenhar Syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS), is a rare congenital condition characterized by a wide range of facial and craniofacial abnormalities. It is named after the Swiss ophthalmologist Maurice Goldenhar, who first described the syndrome in 1952.
Individuals with Goldenhar Syndrome typically exhibit asymmetrical facial features, which may include underdevelopment or absence of one ear (microtia), facial clefts, lower jaw malformation (mandibular hypoplasia), and ocular anomalies such as coloboma (a gap or notch on certain eye structures). Additionally, the syndrome often involves vertebral anomalies affecting the spinal column, which may lead to scoliosis or other skeletal deformities.
Other associated features of Goldenhar Syndrome may involve abnormalities of the heart, kidneys, lungs, and central nervous system. Hearing loss, eye movement problems, or visual impairments can also occur, depending on the severity of craniofacial and ocular malformations. The condition varies widely in its presentation and severity from person to person, and the exact cause remains unclear, although some cases have been associated with genetic mutations or environmental factors.
Diagnosis of Goldenhar Syndrome usually occurs shortly after birth, based on the distinct physical characteristics. Treatment often involves a multidisciplinary approach, addressing the individual needs of each patient. It may involve surgical correction of facial deformities or interventions to improve hearing, vision, or other associated health complications. Early intervention and ongoing medical management can help individuals with Goldenhar Syndrome to achieve optimal quality of life and functional abilities.
Common Misspellings for GOLDENHAR SYNDROME
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Etymology of GOLDENHAR SYNDROME
The term "Goldenhar Syndrome" is named after the 19th-century Dutch ophthalmologist, Dr. Maurice Goldenhar. He was the first to describe a constellation of congenital anomalies that often occurred together, including facial and cranial malformations. Dr. Goldenhar's observations led to the recognition of this specific syndrome, which was eventually named in his honor.
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