Wildervanck Syndrome: Causes, Symptoms, Treatment
What is Wildervanck Syndrome?
Wildervanck Syndrome is an extremely rare genetic condition seen mostly in females and is characterized by skeletal deformity which is known by the name of Klippel-Feil Syndrome, ocular abnormalities, and congenital hearing impairment.
Affected females with Wildervanck Syndrome will tend to have abnormal fusion of cervical vertebrae, absence of horizontal eye motions, and retraction of the eyeball into the eye cavity when looking inward, and strabismus.
Additionally, there may also be certain other physical abnormalities associated with Wildervanck Syndrome. The root cause for the development of this condition is still not known although since it occurs mostly in females researchers are of the opinion that it is an X linked trait which causes the symptoms of Wildervanck Syndrome.
What are the Causes of Wildervanck Syndrome?
In majority of the cases, Wildervanck Syndrome is caused due to random mutations which are still a matter of research. Since this condition mostly affects females, researchers are of the opinion that it is an X-linked disorder. Some researchers are of the opinion that there are several genes which interact with each other abnormally, called as polygenic inheritance, resulting in the development of Wildervanck Syndrome.
What are the Symptoms of Wildervanck Syndrome?
The primary presenting features of Wildervanck Syndrome is basically three fold which includes fusion of two or more bones of the cervical vertebrae, congenital hearing impairment, absence of certain eye motions, although in some cases all the three features may not be present.
Intellectual disability is also present in females with Wildervanck Syndrome. Females with this condition as a result of the fusion of the cervical vertebrae also tend to have an abnormally short neck. The movement of the head and the neck may be severely restricted as a result Wildervanck Syndrome.
Torticollis may also be present in females with Wildervanck Syndrome. The abnormality in the cervical spine due to Wildervanck Syndrome may lead to certain neurological complications later in life to include pain, paresthesias, tingling, pain, and hyperreflexia. In some cases it may lead to hemiplegia or paralysis of one side of the body.
In some cases, as a result of Wildervanck Syndrome there may be additional skeletal abnormalities to include underdevelopment of certain vertebrae resulting 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 as a result of Wildervanck Syndrome.
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.
How is Wildervanck Syndrome Diagnosed?
Most of the diagnosis of Wildervanck Syndrome can be made during the first year of life based on a thorough evaluation of the child and the characteristic presenting features of Wildervanck Syndrome.
There are also certain diagnostic tests that may be done like CT and MRI scans to detect any skeletal abnormalities within the eyes and ears. The fusion of the cervical vertebrae can also be seen easily on these advanced radiological studies.
Studies may also be done to identify any other abnormalities that might be associated with this condition and confirm the diagnosis of Wildervanck Syndrome.
How is Wildervanck Syndrome Treated?
The treatment of Wildervanck Syndrome is basically symptomatic and is variable depending on the symptoms that the patient exhibits. The treatment generally requires multidisciplinary approach with inputs from various specialties who can formulate a treatment plan for the child. This will include coordinated efforts from pediatricians, orthopedists, neurologists, audiologists, and ophthalmologists.
Regular monitoring is required of the patient as the abnormality in the cervical vertebrae may lead to neurological abnormalities which may need to be treated emergent fashion.
Additionally, such individuals need to avoid doing any activity that may potentially injure the cervical vertebral column due to Wildervanck Syndrome. Surgery may be required to treat some of the deformities caused by Wildervanck Syndrome.
Surgery is also recommended to treat the ear problems associated with Wildervanck Syndrome. Ocular surgery may be done to correct some of the eye abnormalities associated with Wildervanck Syndrome.
In some cases where patient may not be a surgical candidate, hearing and optical aids may be useful for correction of the hearing and ocular deficits caused due to Wildervanck Syndrome. It should be noted that earlier the treatment starts, better will be the outcome of treatment for Wildervanck Syndrome.