What is Klippel Feil Syndrome
Klippel Feil Syndrome occurs when some of the bones in the neck are connected to each other (fused) when they should not be. This is an uncommon bone disorder that is present at birth (congenital).
Klippel-Feil syndrome varies greatly from child to child. Some children grow up and never know they have it. Others have mild cases, with few or no symptoms. Other children have more severe cases, with more symptoms and associated conditions.
What are the causes?
The cause of this condition is not known. It may be related to:
- Abnormal bone development before birth.
- Genes passed from parent to child (inherited genes).
- Other genetic syndromes or abnormalities.
What are the signs or symptoms?
Possible symptoms include:
- Short neck.
- Webbed neck or an abnormal skin fold from the neck to the shoulders.
- Neck pain.
- Reduced range of motion in the neck.
- Very low hairline at the back of the neck.
- Curved spine.
- Permanent tilt of the head to one side.
- Hearing problems.
- Kidney problems.
- Heart defects.
- An opening in the spine (spina bifida).
- An opening in the roof of the mouth (cleft palate).
- Long-lasting (chronic) headaches.
- The two sides of the child’s face not matching (facial asymmetry).
How is this diagnosed?
This condition may be diagnosed based on:
- Your child’s symptoms and medical history.
- CT scans.
- An MRI.
Your child may have tests to check for conditions associated with Klippel-Feil syndrome. Tests may include:
- Hearing tests.
- Heart ultrasound (echocardiogram).
- Kidney ultrasound.
How is this treated?
There is no cure for Klippel-Feil syndrome, but treatment can help you and your child manage your child’s symptoms. Depending on how severe your child’s condition is, treatment may include:
- Surgery, if your child’s daily activities are affected by pain or trouble moving around.
- A neck or back brace, if your child has a curved spine that is getting worse.
- Physical therapy to help strengthen muscles and improve flexibility.
- Other treatments as needed to deal with problems like hearing loss, kidney problems, or heart problems.
Follow these instructions at home:
If your child has a brace:
- Have your child wear the brace as told by your child’s health care provider. Remove it only as told by your child’s health care provider.
- Keep the brace clean.
- If the brace is not waterproof:
- Do not let it get wet.
- Cover it with a watertight covering when your child takes a bath or a shower.
- Do not give your child aspirin, because of the association with Reye syndrome.
- Give your child over-the-counter and prescription medicines only as told by your child’s health care provider.
- Talk with your child’s health care provider about what to expect. This will depend on how severe your child’s spinal problems are and what other areas of the body are affected.
- Learn as much as possible about this condition. If your child is old enough, learn about the condition together. It is important to have an active role in your child’s treatment.
- Have your child do physical therapy exercises as directed.
- Ask your child’s health care provider what activities are safe for your child.
- Keep all follow-up visits as told by your child’s health care provider. This is important.
Contact a health care provider if your child has:
- Numbness, tingling, or weakness in any part of the body.
- New pain or increased pain that does not get better with his or her usual treatments.
- New hearing loss.
- Trouble doing daily activities.
Get help right away if:
- Your child is dizzy or faints.
- Your child is not producing urine.
- Your child has any of the following:
- Severe pain that does not go away.
- Difficulty breathing.
- Sudden weight gain.
- Klippel-Feil syndrome occurs when some of the bones in the spine (vertebrae) are connected to each other (fused) when they should not be.
- How Klippel-Feil syndrome affects a child varies greatly from child to child.
- The cause of this condition is not known.
- There is no cure for Klippel-Feil syndrome, but treatment can help you to manage your child’s symptoms.