What does Klippel-Feil syndrome look like?

Klippel-Feil syndrome is a rare bone disorder distinguished by the abnormal fusion of two or more bones in the neck. Children with the disorder may have a short, webbed neck, decreased range of motion in the head and neck area, and/or a low hairline at the back of the head.

What is the cause of Klippel-Feil syndrome?

Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.

Can you be born with no neck?

Klippel-Feil Syndrome (KFS) is a congenital bone condition in which at least 2 cervical vertebrae remain fused and immobile. Some common signs may include a visibly short neck and low hairline behind the head.

Is Klippel-Feil hereditary?

In most cases, Klippel Feil syndrome (KFS) is not inherited in families and the cause is unknown. In some families, KFS is due to a genetic alteration in the GDF6, GDF3 or MEOX1 gene and can be inherited. When KFS is caused by mutations in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant manner.

Can someone be born without a neck?

Can you undo a spinal fusion?

Light says that total disc replacement using a device called the ProDisc Implant can be beneficial for revision, or “reversal” of a previous spinal fusion as well as an alternative to fusion in the first place.

What is Hemivertebra?

Hemivertebra is a rare congenital vertebral abnormality that can lead to deformation of the spine, such as scoliosis, lordosis, or kyphosis [1], and it is usually located in the thoracic and lumbar regions. The birth rate of hemivertebrae is 0.05–0.10% [2], occurring more commonly in females.

What is Klippel Feil syndrome?

Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine.

What are the signs and symptoms of Klippel syndrome?

The three most common signs and symptoms of Klippel syndrome are a short neck, low posterior hairline, and limited range of motion of the neck. These are called the Klippel-Feil syndrome triad.

What are the characteristics of Feil syndrome?

They described patients who had a short, webbed neck; decreased range of motion (ROM) in the cervical spine; and a low hairline. Feil subsequently classified the syndrome into 3 categories:

What is the history of Feil syndrome?

In 1919, in his Doctor of Philosophy thesis, André Feil suggested another classification of the syndrome, encompassing not only deformation of the cervical spine, but also deformation of the lumbar and thoracic spine.