Wildervanck syndrome


Update Date 11/05/2020 . 4 mins read


What is Wildervanck syndrome?

Wildervanck syndrome is a condition that affects the bones in the neck, the eyes, and the ears. It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder), and hearing loss.

How common is Wildervanck syndrome?

Wildervanck syndrome primarily affects females. Since the disorder was originally described in 1952 (L.S. Wildervanck), almost 90 cases have been reported in the medical literature. According to some reports, approximately one percent of females with hearing impairment may be affected by Wildervanck syndrome. Please discuss with your doctor for further information.


What are the symptoms of Wildervanck syndrome?

The primary presenting features of Wildervanck syndrome is basically three fold including those as following (Although in some cases all the three features may not be present):

  • Fusion of two or more bones of the cervical vertebrae
  • Congenital hearing impairment
  • Absence of certain eye motions

Females with this condition also have:

  • Intellectual disability
  • Abnormally short neck
  • Restricted movement of the head and the neck
  • Torticollis
  • Neurological complications  later in life to include pain, paresthesias, tingling, pain, and hyperreflexia
  • Hemiplegia or paralysis of one side of the body

In some cases, as a result of Wildervanck syndrome there may be additional skeletal abnormalities including underdevelopment of certain vertebrae which results in a condition called spina bifida, and presence of scoliosis.

There may also be underdevelopment of the shoulder blade affecting the movement of the shoulders and arm on the affected side.

In some individuals with Wildervanck syndrome, there may be other ocular abnormalities to include swelling of the optic disc, partial or complete dislocation of the lenses of the eyes, formation cysts on the eyeballs.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes Wildervanck syndrome?

The exact cause of Wildervanck syndrome is not known. It is suspected to be a polygenic condition, meaning that many genetic factors may be involved. Environmental factors may also be involved, indicating that this condition may be due to many factors (multifactorial).

Risk factors

What increases my risk for Wildervanck syndrome?

Wildervanck syndrome does not have a clear pattern of inheritance. In most cases, only one person in a family is affected. These cases are called isolated or sporadic because there is no family history of Wildervanck syndrome. Because this syndrome occurs mostly in females, some researchers suggest that this condition may be transmitted as an X-linked dominant trait. The lack of males with Wildervanck syndrome suggests that affected males have more severe features and do not survive to birth.

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Wildervanck syndrome diagnosed?

Wildervanck syndrome may be detected at birth or during the first year of life based upon a thorough clinical evaluation, identification of characteristic physical findings, and specialized tests.

Diagnostic studies may include advanced imaging techniques, such as computerized tomography (CT) scanning or magnetic resonance imaging (MRI). During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of internal structures. An MRI uses a magnetic field and radio waves to form detailed cross-sectional images of certain organs and tissues. Such techniques may help to detect and characterize abnormalities of the inner ear, union or fusion of certain bones of the spinal column (e.g., cervical vertebrae), possible impingement of vertebrae on the spinal cord, or other abnormalities potentially associated with the disorder.

In addition, in some individuals with Wildervanck syndrome, exploratory surgery may be conducted to detect malformations of the middle ear (exploratory tympanotomy).

Additional specialized tests may also be performed to confirm or characterize other abnormalities that may be associated with the disorder (e.g., certain ocular findings, congenital heart defects, renal abnormalities, etc.).

How is Wildervanck syndrome treated?

The treatment of Wildervanck syndrome is directed toward the specific symptoms and physical findings that are present in each individual. Such therapies may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child’s treatment. These may include pediatricians; physicians who diagnose and treat disorders of the skeleton, muscles, joints, and related tissues (orthopedists); eye specialists (ophthalmologists); hearing specialists (e.g., otologists and audiologists); physicians who diagnose and treat heart abnormalities (cardiologists); surgeons; and/or other health care professionals.

In some individuals with Wildervanck syndrome, treatment measures may include surgical repair of certain abnormalities. For example, middle ear surgery may be recommended for some individuals with conductive hearing loss. Ocular surgery may help to improve or correct impairment of certain eye movements. In addition, for those with cervical spinal cord compression, surgery may be conducted to correct such compression or associated vertebral instability. Surgical measures may also be recommended for other skeletal, ocular, auditory, cardiac, or other abnormalities potentially associated with Wildervanck syndrome. The surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors.

In addition, some affected individuals with hearing impairment may benefit from the use of specialized hearing aids. Other treatment for Wildervanck syndrome is symptomatic and supportive.

In some cases, early intervention may be important in ensuring that children with Wildervanck syndrome reach their potential. Special services that may be beneficial include special education, physical therapy, and/or other medical, social, and/or vocational services.

Genetic counseling will also be of benefit for individuals with Wildervanck syndrome and their families.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Wildervanck syndrome?

The following lifestyles and home remedies might help you cope with Wildervanck syndrome:

Because some affected individuals with abnormal union or fusion of certain cervical vertebrae may have an increased risk of neurological complications, they should be regularly monitored by physicians. In addition, they should avoid activities that may lead to trauma or injury to cervical vertebrae.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Hello Health Group does not provide medical advice, diagnosis or treatment.

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