Klippel–Feil syndrome
| Klippel-Feil syndrome | |
|---|---|
| Other names | Congenital dystrophia brevicollis, cervical vertebral fusion syndrome |
| Woman with Klippel–Feil syndrome | |
| Pronunciation |
|
| 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 |
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).[1]: 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.[2]
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.[3] 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.[4] In 1919, 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.[5]
- ^ Andrews, James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ "Klippel-Feil syndrome". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 2018-08-18.
- ^ "Klippel-Feil Syndrome". HONselect. Archived from the original on 2018-06-12. Retrieved 2013-01-20.
- ^ Belykh, Evgenii; Malik, Kashif; Simoneau, Isabelle; Yagmurlu, Kaan; Lei, Ting; Cavalcanti, Daniel D.; Byvaltsev, Vadim A.; Theodore, Nicholas; Preul, Mark C. (July 2016). "Monsters and the case of L. Joseph: André Feil's thesis on the origin of the Klippel-Feil syndrome and a social transformation of medicine". Neurosurgical Focus. 41 (1): E3. doi:10.3171/2016.3.FOCUS15488. ISSN 1092-0684. PMID 27364256.
- ^ Feil A (1919). "These de medicine, Paris. L'absence et la diminution des vertèbres cervicales (étude clinique et pathogénique); le syndrome de réduction numérique cervicales".
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