Wildervanck syndrome
Wildervanck Syndrome
Wildervanck Syndrome (pronounced: wil-der-vanck sin-drome), also known as Cervicooculoacoustic Syndrome, is a rare genetic disorder characterized by a triad of clinical features: Klippel-Feil anomaly, Duane anomaly, and sensorineural hearing loss.
Etymology
The syndrome is named after Dutch pediatrician Louise Wildervanck, who first described the condition in 1952.
Definition
Wildervanck Syndrome is a rare genetic disorder that primarily affects females. The syndrome is characterized by three main features: Klippel-Feil anomaly, Duane anomaly, and sensorineural hearing loss.
- Klippel-Feil anomaly is a congenital condition characterized by the fusion of two or more cervical vertebrae, which leads to a short neck and restricted neck movement.
- Duane anomaly or Duane retraction syndrome (DRS) is a congenital eye movement disorder characterized by the inability to move the eye outwards.
- Sensorineural hearing loss is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).
Symptoms
The symptoms of Wildervanck Syndrome can vary greatly among individuals. Some may have mild symptoms, while others may have severe symptoms. Common symptoms include a short neck, limited neck movement, hearing loss, and eye movement abnormalities.
Diagnosis
Diagnosis of Wildervanck Syndrome is based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include hearing tests, imaging studies such as MRI or CT scan to visualize the cervical spine, and genetic testing.
Treatment
Treatment of Wildervanck Syndrome is symptomatic and supportive. Physical therapy may be beneficial for individuals with neck stiffness and mobility issues. Hearing aids may be used for those with hearing loss. In some cases, surgery may be necessary.
Prognosis
The prognosis for individuals with Wildervanck Syndrome varies. The severity of the condition and the presence of additional symptoms can affect an individual's quality of life and life expectancy.
See Also
External links
- Medical encyclopedia article on Wildervanck syndrome
- Wikipedia's article - Wildervanck syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski