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Klippel-Feil Syndrome
Sunday, 08 August 2004
Sunday, 08 August 2004

What

Klippel-Feil Syndrome is a rare disorder that is present at birth and characterized by bony abnormalities in the spine. It is distinguished by the fusion of any 2 cervical vertebrae (spinal bones in the neck). Klippel-Feil Syndrome may be associated with the kidneys, ribs, heart, lungs, spinal abnormalities such as scoliosis (abnormal curvature of the spine) and spina bifida (a birth defect where the spinal cord is exposed).

Who

The incidence of Klippel-Feil Syndrome varies widely, but it has been estimated to be between 1 in 100 and 1 in 42,000 births. Females tend to be slightly more affected (65% of affected patients). Sometimes the symptoms of Klippel-Feil Syndrome may be so minor that many people who have Klippel-Feil Syndrome go undiagnosed. Klippel-Feil Syndrome has not been identified as a genetic disorder, however many cases in families have been reported.

Signs and Symptoms

The symptoms of Klippel-Feil Syndrome vary greatly depending on the severity of the syndrome. Sometimes the disorder may be painless if the severity of the fusion of the vertebrae is slight and the neck has a full range of motion. Common signs and symptoms of Klippel-Feil Syndrome may include:

  • Neck stiffness
  • Short neck
  • Cervical neck deformities
  • Scoliosis (abnormal curvature of the spine)
  • Low hairline at the back of the neck
  • Hearing loss
  • Facial asymmetry and torticollis

Possible Causes

Klippel-Feil Syndrome is caused by a defect early in fetus development where there is a failure of the cervical neck vertebrae to form properly. There is a lack of segmentation or proper cell migration. The exact cause for the failure of these cells to segment properly is not known. The gene defect responsible for the abnormal vertebrae formation has not been identified however, it is theorized that Klippel-Feil syndrome can be inherited within families. The exact inheritance pattern is still under investigation.

Diagnosis

Making the diagnosis of Klippel-Feil Syndrome involves recognition of the usual presenting symptoms of neck pain and limited range of motion. X-rays are usually performed to detect a bony defect in the spine and other imaging studies such as CT (computed tomography) and MRI (magnetic resonance imaging) are used to better view the patient’s anatomy. If there are other suspected defects of the heart or kidneys, blood tests and ultrasound can also be done.

Treatment

Treatment for Klippel-Feil Syndrome is mostly symptomatic and depends on the severity and location of the defect. Physical therapy may be used at first to increase range of motion and relieve pain. Oral pain killers and anti-inflammatory agents (ibuprofen) may be used to improve symptoms. Surgical bone reconstruction is performed in severe cases to help increase mobility, decrease pain and pressure load, and even relieve pressure on the spinal cord. If scoliosis is present, surgical correction may be needed to prevent worsening of the condition. Some patients with Klippel-Feil Syndrome may also develop osteoarthritis from the compensated overuse of the normal vertebrae and may need to seek consultation with a rheumatologist.

Prognosis

The prognosis for most individuals with Klippel-Feil Syndrome is good if the disorder is treated early and appropriately. Because of the susceptibility of the neck, activities that could injure the neck should be avoided. Patients with less severe malformations can lead normal lives. Severely involved patients also have a good prognosis if appropriate treatment is started early.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

KFS Connection
Great website for education, information, and support groups for patients and families suffering from Klippel-Feil Syndrome.

KFS Circle of Friends
The KFS Circle of Friends is a group of people who have been affected in some way by Klippel-Feil syndrome. This website provides support and information about the disease gathered by patients who currently suffer from Klippel-Feil Syndrome.

Kids Together
This website, though not specific to Klippel Feil syndrome, provides helpful information and resources to enhance the quality of life for children, adults, and their families.

National Institute of Neurologic Disorders and Stroke (NINDS)
National organization providing important disease information.

Google Search for Klippel-Feil Syndrome

References and Sources

Emedicine.com article by J. Andy Sullivan, M.D. www.emedicine.com/orthoped/topic408.htm Baba H, Maezawa Y, Furusawa N, et al: The cervical spine in the Klippel-Feil syndrome. A report of 57 cases. Int Orthop 1995; 19(4): 204-8 Tracy, MR., Dormans, JP., Kusumi, K. (2004) Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop. Jul;(424): 183-90.