Klippel-Feil syndrome


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Related to Klippel-Feil syndrome: Klippel-Trenaunay Syndrome

Klippel-Feil syndrome

 [klĭ-pel´ fīl]
shortness of the neck due to reduction in the number of cervical vertebrae or the fusion of multiple hemivertebrae into one osseous mass, with limitation of neck motion and low hairline.

Klip·pel-Feil syn·drome

(klip'ĕl fīl), [MIM*148900]
a congenital defect manifested as a short neck, fusion of cervical vertebrae, and abnormalities of the brainstem and cerebellum; autosomal dominant inheritance, with most cases sporadic.

Klippel-Feil syndrome

A condition (OMIM:214300) characterised by short neck, low hairline and decreased cervical motion.
 
Associated conditions
Congenital scoliosis (60%, most need treatment); Sprengel's deformity (failure of scapula to descend, remains attached to cervical spine by omovertebral bone or fibrous band) (33%); renal disease, often with aplasia (33%); synkinesis (mirror movements); congenital heart disease; brain stem defects; congenital cervical stenosis; syndactyly and hypoplastic thumb; hearing loss (30%).

Pathogenesis
Klippel-Feil syndrome is characterised by congenital failure of normal segmentation of cervical somites at 3–8 weeks's gestation, resulting in two or more fused cervical segments.

Klippel-Feil sequence/syndrome

 The combination of short neck, low hairline at nape of the neck and limited movement of head, due to a defect in the early development of the spinal column in the neck–the cervival vertebrae

Klip·pel-Feil syn·drome

(klipĕl fīl sindrōm)
A congenital abnormality of the spine characterized by a reduction in the number of cervical vertebrae and their fusion. See this page.

Feil,

André, French physician, 1884–.
Feil-Klippel syndrome - Synonym(s): Klippel-Feil syndrome
Klippel-Feil syndrome - see under Klippel

Klippel,

Maurice, French neurologist, 1858-1942.
Feil-Klippel syndrome - Synonym(s): Klippel-Feil syndrome
Klippel-Feil syndrome - a congenital defect manifested as a short neck, extensive fusion of the cervical vertebrae, and abnormalities of the brainstem and cerebellum. Synonym(s): cervical fusion syndrome; Feil-Klippel syndrome
Klippel-Trenaunay-Weber syndrome - an anomaly of the extremity in which there is a combination of angiomatosis and anomalous development of the underlying bone and muscle, sometimes associated with localized gigantism. Synonym(s): angioosteohypertrophy syndrome; congenital dysplastic angiectasia; hemangiectatic hypertrophy

Klip·pel-Feil syn·drome

(klipĕl fīl sindrōm) [MIM*148900]
A congenital abnormality of the spine characterized by a reduction in the number of cervical vertebrae and their fusion.
References in periodicals archive ?
Yakicier et al., "Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype," BMC Genetics, vol.
Bozdogan et al., "Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome," American Journal of Medical Genetics Part A, vol.
Klippel-Feil syndrome. Am J Emerg Med 2008; 26:252.e1-2.
Klippel-Feil syndrome - the risk of cervical spinal cord injury: a case report.
It was also associated with scoliosis and Sprengel's deformity which is seen only in 30% of the cases of Klippel-Feil syndrome.
CONCLUSION: A patient with Klippel-Feil syndrome with minimal involvement can be expected to lead a normal active life with no or only minor restrictions or symptoms.
Klippel-Feil syndrome presenting with bilateral thoracic outlet syndrome.
Risk factors in Klippel-Feil syndrome. Spine 1994; 19: 2110-6.
Klippel-Feil syndrome was first described independently in 1912 by Maurice Klippel and Andre Feil (1).
Meticulous care was taken to maintain hemodynamic stability for Klippel-Feil syndrome patient with atrial septal defect in prone position.