Which are the symptoms of Goldenhar Syndrome?

Goldenhar Syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS), is a rare congenital condition that primarily affects the development of the face, ears, and spine. It is named after Maurice Goldenhar, the Dutch ophthalmologist who first described the syndrome in the 1950s. The exact cause of Goldenhar Syndrome is unknown, but it is believed to result from a combination of genetic and environmental factors.

Symptoms:

The symptoms of Goldenhar Syndrome can vary widely from person to person, and the severity of the condition can also differ significantly. Some individuals may only exhibit a few mild features, while others may have more pronounced abnormalities. The most common symptoms and characteristics associated with Goldenhar Syndrome include:

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  Craniofacial Abnormalities: One of the hallmark features of Goldenhar Syndrome is craniofacial asymmetry. This can manifest as facial asymmetry, underdeveloped or absent cheekbones, and a smaller jaw on one side of the face. The ears may also be affected, with one ear being smaller or positioned differently than the other. Additionally, individuals with Goldenhar Syndrome may have a cleft lip or palate, dental abnormalities, or a deviated nasal septum.
  


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  Ocular Abnormalities: Eye abnormalities are common in Goldenhar Syndrome. These can include microphthalmia (underdeveloped eyes), coloboma (a gap or split in the structures of the eye), or anophthalmia (absence of one or both eyes). Vision problems such as refractive errors, strabismus (crossed or misaligned eyes), or nystagmus (involuntary eye movements) may also be present.
  


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  Spinal Abnormalities: Goldenhar Syndrome can affect the development of the spine, leading to vertebral anomalies. These may include fusion or malformation of the vertebrae, scoliosis (sideways curvature of the spine), or hemivertebrae (wedge-shaped vertebrae). These spinal abnormalities can cause postural issues, limited mobility, or even spinal cord compression in severe cases.
  


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  Hearing Loss: Many individuals with Goldenhar Syndrome experience hearing loss or deafness. This can be due to abnormalities in the structure of the ears, such as underdeveloped or absent ear canals, malformed middle ear bones, or absence of the inner ear structures. The severity of hearing loss can vary, ranging from mild to profound.
  


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  Cardiac and Renal Abnormalities: In some cases, Goldenhar Syndrome may be associated with cardiac (heart) or renal (kidney) abnormalities. These can include structural defects in the heart or kidney, which may require medical intervention or monitoring.
  


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  Other Features: Additional features that may be present in individuals with Goldenhar Syndrome include limb abnormalities (such as missing fingers or toes), genitourinary abnormalities, respiratory issues, gastrointestinal problems, or developmental delays.
  

It is important to note that not all individuals with Goldenhar Syndrome will have all of these symptoms. The combination and severity of features can vary greatly, making each case unique. Early diagnosis and intervention are crucial to address any potential medical, developmental, or psychological challenges associated with the syndrome.