anyone knowledgable about Klippel-feil Syndrome & Numbness

Anyone Knowledgable about Klippel-fiel Syndrome? I'm having a ton of  new symptons of numbness to left side of head, mouth, throat, neck, shoulder/shoulderblade, arm, wrist, hand and fingers, occationally the left side of trunk & leg. I have deminished reflexes, weakness.  I have what seems like always on & off have had muscle tightness in neck, shoulder, and shoulderblade area along with headaches and lightheadedness/dizziness.

[DrNavneetMD]

  Hello Dear,

Klippel-fiel Syndrome is caused by a failure in the normal segmentation of the cervical vertebrae during the early weeks of fetal development. Features include a short neck, restricted mobility of the upper spine and a low hairline. Any of the cervical vertebrae can be involved but the commonest fusion is of C2,3 Clinical presentation is varied because of the many associated syndromes and anomalies that can occur. It may occur with fetal alcohol syndrome and with vascular disruption. Associated abnormalities may include   scoliosis, spina bifida anomalies of the kidneys and the ribs, cleft palate, respiratory problems and heart malformations. There may also be abnormalities of the head and face, skeleton, genitals, muscles, brain and spinal cord, arms, legs and fingers.
• Presentation may occur at any time in life, often as an incidental finding.
• Upper cervical spine involvement tends to present at an earlier age than involvement of the lower cervical spine. Decreased range of movement of the neck is the most consistent finding with loss of rotation being more pronounced than is the loss of flexion and extension.
• A low hairline occurs in 40 to 50%.
• About 20% have neurological problems. These may be produced by hypermobility. Some patients present with pain. Scoliosis may be congenital or acquired and affects around 60%. Sometimes there is a compensatory scoliosis. High cervical abnormalities can cause acute spinal cord compression following comparatively minor trauma.
• Synkinesia is mirror movement of the upper extremity in which patients are unable to perform a movement of the right hand without performing the same movement of the left hand.7 This is disabling in everyday activities. It may be improved with therapy and usually improves with age.
• Many and varied abnormalities of the renal system have been reported in as many as a third of cases.
• Torticollis and facial asymmetry with possible craniofacial anomalies affect between a quarter and a half of all sufferers.
• The hearing loss can be sensorineural, conductive or mixed as there are many possible defects in the ear.8 One study found deafness in 35 of 44 or 80%.
• Cardiovascular anomalies occur in 15 to 30% of cases. The commonest problem is ventricular septal defect.

MANAGEMENT

• Abnormalities of the heart or renal system may require surgical correction.
• Where hearing is impaired, appropriate intervention is required.
• Surgery is indicated in a number of situations. Fusion anomalies and the difference in growth potential between the two sides of the spine can make deformity progressive. Instability of the cervical spine requires fixation. Instability of the cervical spine can develop between two sets of fusion anomalies separated by a normal segment. Neurological deficits or persistent pain require surgery. Development of a compensatory curve in the thoracic spine may require surgical intervention or bracing. Symptomatic spinal stenosis may require decompression and fusion.
• Avoidance of trauma is important. A person with no neck may seem an ideal candidate for the front row of a scrum but this would be extremely dangerous.
• Genetic counselling may be required.

Refer http://www.patient.co.uk/showdoc/40001385/
Best

[Aled93]

Thank you for this information!  

Actually ended up going in to the emergency room.  I was admitted for 3 days and alot of test were ran.  My blood pressure is high and varying greatly from one arm to the other. On discharge from the hospital I was instructed to contact Vascular Surgeon for a consult appointment.

[kfspatient1]

Doctor,

I have Klippel-Feil Syndrome.  My symptoms have been pretty-much static but they have progressed some. I would like to see a neuro/spine surgeon who is experienced in working with KFS. How would you go about finding someone in the Southeast United States and what criteria would you use.