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:
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.