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How is Wildervanck Syndrome diagnosed?

See how Wildervanck Syndrome is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Wildervanck Syndrome

Wildervanck Syndrome diagnosis

Wildervanck Syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. It is characterized by a combination of three main features: Klippel-Feil anomaly, hearing loss, and Duane syndrome.



Klippel-Feil anomaly refers to the fusion or malformation of two or more cervical vertebrae in the neck. This can lead to a limited range of motion in the neck and a short neck appearance.



Hearing loss is another key feature of Wildervanck Syndrome. It can range from mild to severe and may affect one or both ears. The hearing loss is typically sensorineural, which means it is caused by damage to the inner ear or auditory nerve.



Duane syndrome is a condition that affects eye movement. Individuals with Wildervanck Syndrome may have limited or absent horizontal eye movement, which can cause strabismus (crossed eyes) or other eye alignment issues.



Diagnosing Wildervanck Syndrome involves a comprehensive evaluation by a medical professional, typically a geneticist or a specialist in ear, nose, and throat disorders (otolaryngologist). The diagnosis is based on the presence of the three main features mentioned above.



The evaluation may include:




  • A thorough medical history to identify any developmental or physical abnormalities

  • A physical examination to assess the range of motion in the neck and any visual or eye movement abnormalities

  • Hearing tests, such as audiometry, to determine the extent and type of hearing loss

  • Imaging studies, such as X-rays or magnetic resonance imaging (MRI), to visualize the cervical spine and confirm the presence of Klippel-Feil anomaly

  • Genetic testing to identify any specific genetic mutations associated with Wildervanck Syndrome



It is important to note that the diagnosis of Wildervanck Syndrome can be challenging due to its rarity and the variability in its presentation. Therefore, a multidisciplinary approach involving different specialists is often necessary to reach a definitive diagnosis.


Diseasemaps
2 answers
At birth a genetic doctor will have several visits and put all signs of symptoms together.

Posted Nov 10, 2018 by Elaine 400

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