Klippel–Feil syndrome
Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck (cervical vertebrae).: 578 It can result in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline. Most people only have one or two of those symptoms so it may not be noticeable without medical imaging.
| Klippel-Feil syndrome | |
|---|---|
| Other names | Congenital dystrophia brevicollis, cervical vertebral fusion syndrome |
| Woman with Klippel–Feil syndrome | |
| Pronunciation |
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| Specialty | Paediatrics, orthopaedics |
| Symptoms | Cervical spine fusion, scoliosis, spina bifida, heart defect, respiratory problems, other syndromic features |
| Usual onset | Congenital |
| Causes | Genetic mutations |
| Risk factors | Family history |
| Prognosis | Shorter life expectancy in some cases |
| Frequency | 1 in 40,000 to 42,000 births, females more affected than males |
The syndrome is difficult to diagnose, as it occurs in a group of patients affected with many different abnormalities who can only be unified by the presence of fused or segmental cervical vertebrae. KFS is not always genetic and not always known about on the date of birth.
The disease was initially reported in 1884 by Maurice Klippel and André Feil from France. 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.