Klippel-Feil syndrome

Also known as

Klippel-Feil syndrome is a rare disorder characterised by failure of the bones (vertebrae) in the neck (cervical) region of the spine to divide as they should during fetal development. This results in fusion of any 2 of the 7 neck (cervical) vertebrae. Fusion is usually present at birth (congenital). The most common signs of the condition are a short neck, low hairline at the back of the head, and limited movement of the upper spine.

Condition details

Additional fusion or anomalies of vertebrae in the chest area (thoracic spine) or lower back may also be seen in Klippel-Feil syndrome. The symptoms vary widely and can present at any age. There are a range of other features that can be associated with Klippel-Feil syndrome. These include: curvature of the spine (scoliosis); a mild birth defect of the spine (spina bifida occulta); one shoulder blade higher than the other (sprengel deformity of the shoulder); kidney and urinary tract problems; opening in the roof of the mouth (cleft palate); fusion of two or more ribs; problems with movements including when one side of the body is moved, the other side wanting to do exactly the same (known as mirror movements); and hearing problems. The condition may also be associated with abnormalities of the head and face, skeleton, heart, lungs, sex organs, muscles, brain, arms, legs, and fingers. Sometimes the voice box (larynx) can be involved causing problems with speech.

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Affected genes identified to date

  • GDF6
  • GDF3 and MEOX1

Inheritance patterns

Is Autosomal recessive Is Autosomal dominant

When it is caused by genetic changes (mutations) in the MEOX-1 gene, it is inherited in an autosomal recessive pattern.

When Klippel-Feil syndrome is caused by genetic changes (mutations) in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant pattern.

Are carriers affected?

Carriers of autosomal recessive KFS typically do not develop signs or symptoms of the disorder.

How many are affected?

About 1 in 40,000.

Support groups and organisations

Tel
Facebook https://www.facebook.com/groups/46371362650/

Known experts

No experts found

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