What is Wildervanck Syndrome?
Wildervanck Syndrome is an passing rare genetic condition seen mostly in females and is characterized by wasted disfigurement which is known by the name of Klippel - Feil Syndrome , ocular abnormalities , and congenital auditory modality damage .
Affected females with Wildervanck Syndrome will tend to have abnormal fusion of cervical vertebrae , absence seizure of horizontal oculus motions , and retraction of the orb into the eye cavity when look inward , and strabismus .
Additionally , there may also be certain other forcible abnormalities associated with Wildervanck Syndrome . The root cause for the development of this condition is still not known although since it occurs mostly in female investigator are of the opinion that it is an X link up trait which have the symptom of Wildervanck Syndrome .
What are the Causes of Wildervanck Syndrome?
In majority of the cases , Wildervanck Syndrome is have due to random mutations which are still a matter of research . Since this condition mostly dissemble females , researchers are of the opinion that it is an ten - linked disorder . Some researcher are of the vox populi that there are several genes which interact with each other abnormally , called as polygenic inheritance , ensue in the ontogeny of Wildervanck Syndrome .
What are the Symptoms of Wildervanck Syndrome?
The primary presenting features of Wildervanck Syndrome is essentially three fold which includes coalition of two or more bones of the cervical vertebra , congenital hearing impairment , absence of sealed eye move , although in some shell all the three features may not be present .
rational disability is also present in female with Wildervanck Syndrome . Females with this term as a result of the unification of the cervical vertebrae also tend to have an abnormally brusk neck . The motion of the head and the cervix may be severely restricted as a result Wildervanck Syndrome .
Torticollismay also be present in females with Wildervanck Syndrome . The abnormalcy in the cervical thorn due to Wildervanck Syndrome may lead to certain neurological complications later in life to let in annoyance , paresthesias , tingling , painful sensation , and hyperreflexia . In some cases it may result to hemiplegia or palsy of one side of the body .
In some causa , as a result of Wildervanck Syndrome there may be extra emaciated abnormalities to include underdevelopment of sure vertebrae ensue in a condition predict spina bifida , and presence of scoliosis .
There may also be underdevelopment of the shoulder joint steel impact the movement of the shoulder joint and build up on the moved side as a resultant role of Wildervanck Syndrome . In some individual with Wildervanck Syndrome , there may be other ocular abnormalities to include gibbousness of the optic saucer , fond or complete dislocation of the lenses of the eyes , organization cyst on the eyeballs .
How is Wildervanck Syndrome Diagnosed?
Most of the diagnosing of Wildervanck Syndrome can be made during the first year of biography base on a thoroughgoing evaluation of the fry and the characteristic presenting feature of Wildervanck Syndrome .
There are also certain diagnostic test that may be done likeCTandMRI scansto notice any skeletal abnormality within the eye and ears . The fusion of the cervical vertebrae can also be seen easily on these advanced radiological study .
work 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 diagnostic and is variable bet on the symptoms that the patient exhibits . The treatment generally requires multidisciplinary approach with inputs from various strong suit who can devise a treatment plan for the child . This will include coordinated efforts from paediatrician , orthopedists , neurologist , audiologists , and eye doctor .
Regular monitoring is demand of the patient as the abnormality in the cervical vertebrae may chair to neurological irregularity which may ask to be treated emergent fashion .
to boot , such individuals need to avoid doing any natural action that may potentially injure the cervical vertebral column due to Wildervanck Syndrome . operating theater may be want to address some of the deformity stimulate by Wildervanck Syndrome .
surgical process is also recommended to regale the spike problems associated with Wildervanck Syndrome . opthalmic surgery may be done to correct some of the heart abnormality associated with Wildervanck Syndrome .
In some cases where patient role may not be a surgical prospect , audition and opthalmic aids may be useful for discipline of the hearing and visual deficits do due to Wildervanck Syndrome . It should be noted that early the treatment start , well will be the outcome of handling for Wildervanck Syndrome .
