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Klippel–Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and André Feil from France, characterized by the congenital fusion of any two of the seven cervical vertebrae.〔Andrews, James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.〕 The syndrome occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine. Klippel-feil results in limited movement of the neck. Klippel–Feil syndrome is sometimes identified by shortness of the neck, but not all people with this disorder have a visibly shortened neck. Some people with the syndrome have a very low hairline. In 1919, André Feil in his PhD thesis, suggested another classification of the syndrome encompassing not only deformation of the cervical spine but also deformation of the lumbar and thoracic spine. Today, any congenital fusion of at least two vertebrae could be considered to be a manifestation of the Klippel–Feil syndrome. ==Signs and symptoms== Numerous associated abnormalities of other organ systems may be present. This heterogeneity requires comprehensive evaluation of all patients and treatment regimes that can vary from modification of activities to extensive spinal surgeries. Furthermore, it is unclear whether Klippel–Feil syndrome is a unique disease, or if it is one part of a spectrum of congenital spinal deformities. Klippel–Feil syndrome is usually diagnosed after birth. The most common sign of the disorder is restricted mobility of the neck and upper spine. A short neck and low hairline at the back of the head may occur in some patients. Associated abnormalities may include: * scoliosis (side-to-side curvature of the spine), which is abnormal curving of the spine. The spine sometimes appears as a “C” or an “S”. * spina bifida, when the spinal canal and the back bone do not close completely during birth. * anomalies of the kidneys and the ribs, * cleft palate〔 (hole in the roof of the mouth), * dental problems〔 (late dentition, high-risk of caries, oligo- and hypodontia), * respiratory problems, * heart malformations,〔 *short stature, *Duane syndrome, * Approximately 35% of patient's with Klippel–Feil syndrome will also have a congenital elevation of the scapula known as Sprengel's Deformity〔 〕 The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, fingers and heart defects. These heart defects often lead to a shortened life expectancy, the average being 35–45 years of age among males and 40–50 among females. This condition is similar to the heart failure seen in gigantism. In 2011, a study identifying the occurrence of symptoms of 100 patients was published.〔Longpre D. http://www.klippel-feil.info/document/klippelfeilsymptoms2011.pdf〕 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Klippel–Feil syndrome」の詳細全文を読む スポンサード リンク
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