Klippel-Feil Syndrome

What is Klippel-Feil Syndrome?

Back in 1912, Klippel as well as Feil individually made the first portrayals of Klippel-Feil syndrome. They both described a patient with a webbed, short neck; diminished “range of motion” or ROM in cervical spine; and a hairline that is low. Feil consequently categorized this syndrome into three (3) categories:


  • Type I – immense merging of cervical spine
  • Type II – merging of one (1) or two (2) vertebrae
  • Type III – the existence of lumbar and thoracic abnormalities linked with Type I or Type II syndromes

Symptoms

Below is a list of symptoms and signs of Klippel-Feil syndrome:

  • Hairline that is low
  • Short neck
  • Neck vertebrae fused
  • Upper spine restricted mobility
  • Spina bifida
  • Scoliosis
  • Anomalies kidney
  • Anomalies of rib
  • Respiratory problems
  • Cleft palate
  • Heart malformations
  • Abnormalities of head
  • Abnormalities of face
  • Abnormalities of skeleton
  • Abnormalities of sex organ
  • Brain abnormalities
  • Abnormalities of muscles
  • Abnormalities of brain
  • Abnormalities of spinal cord
  • Abnormalities of arm
  • Abnormalities of leg
  • Abnormalities of finger
  • Cervical nerve palsy
  • Cranial nerve palsy
  • Synkinesia
  • Deafness
  • Mental deficiency
  • Ventricular septal defect
  • Sprengel anomaly
  • Restricted movement of neck
  • Posterior fossa dermoid cysts

Klippel-Feil Syndrome Causes

This syndrome is thought to occur very early in development of the fetus due to cervical vertebrae not segmenting as normal. The precise way these defects are triggered is not known.

While the majority of cases of this syndrome occur unexpectedly, there have been some studies of this syndrome that shows a configuration of heritage within a family. In certain cases, maternal alcoholism and ensuing fetal alcohol syndrome appear to be linked with Klippel-Feil syndrome.

Some individuals with this syndrome have no signs or symptoms. Those who have more minor degrees of fusion may live totally normal lives and are involved in all undertakings. They may not have any awareness that they have any abnormality at all. Individuals with fusion which is most severe will obviously be impaired in terms of the neck mobility. Several individuals may have to deal with torticollis or wry neck, which is a complaint where the muscles in the neck pull the neck to one side. When the spinal cord is restricted by vertebrae abnormalities, neurological symptoms such as numbness, weakness, tingling can result.

30% to 40% of all individuals with this syndrome have significant abnormalities structurally of the urinary tract. These can lead to chronic kidney infections referred to as pyelonephritis and a risk that is high of kidney failure.

Klippel-Feil Syndrome Treatment

The team that will manage treatment depends on the degree of disability that is brought on by the defects to the vertebral and the occurrence of any associated difficulties. With those individuals only affected mildly, an orthopedic surgeon and a pediatrician can work together in order to reach a diagnosis. In cases that are more severe, a neurologist or neurosurgeon may need to be involved also. Dependent on other body systems involved a cardiologist, urologist, orofacial surgeon and nephrologist may all be consulted. An audiologist may also consult about issues with hearing. An occupational and physical therapist may be helpful in those issues involving mobility and ability to tend to the activities of daily living.

Individuals who are only mildly affected may need no treatment. Other individuals might need surgery in order to improve stability, correct scoliosis, and improve any constriction of spinal cord. Dependent on the degree of scoliosis is when a brace can be helpful.

Physical therapy may be supportive in order to improve mobility and strength. Occupational therapy may help the most severely limited individuals learn how to better do daily activities of living, despite limitations of condition.

Life Expectancy

Difficulties connected with this syndrome normally do not advance earlier than the age of 25 years and can in some cases be treated surgically. Individuals with this syndrome usually have a lifespan that is normal. Actions that might hurt the neck should be evaded.

Klippel-Feil Syndrome Pictures

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