Klippel-Feil syndrome

(redirected from Klippel-Feil anomaly)

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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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.
Farlex Partner Medical Dictionary © Farlex 2012

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

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
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

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.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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
Medical Eponyms © Farlex 2012

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.
Medical Dictionary for the Dental Professions © Farlex 2012
References in periodicals archive ?
De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly.
In this report, we describe the relatively favorable 31-year clinical history of a patient with spondylocostal dyostosis, Klippel-Feil anomaly (KFA), and type II sacral agenesis.
This case report describes the cooccurrence of multiple disorders related to axial skeleton development: spondylocostal dysostosis, Klippel-Feil anomaly (cervical vertebral fusion), and distal sacral agenesis (caudal regression).
Gilbert, "Tourette Syndrome and Klippel-Feil Anomaly in a Child with Chromosome 22q11 Duplication," Case Reports in Medicine, vol.
Orofacial dysmorphism, cognitive retardation, extremity defects, Klippel-Feil anomaly, Poland syndrome, and epilepsy may also be observed in Moebius syndrome (7).
Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: novel association or syndrome?
He also has associated skeletal anomalies like scoliosis and Klippel-Feil anomaly (Figure 3).
Anomalies in our patient included complete tracheal rings, Klippel-Feil anomaly, bilateral cervical ribs, and scoliosis.
(2,4,5) These syndromes are all associated with mandibular clefts, median lip, bilateral dislocation of knees, elbows, ankles, pulmonary hypoplasia and dysmorphic facial features including prominent forehead, depressed nasal bridge and widely spaced eyes were suggestive of Larsen-like syndrome type 1, (6,7,8) optic G BBB syndrome, oral facial digital syndrome type 1, Klippel-Feil anomaly. Bifid tongue has also been reported as a rare feature associated with infants of diabetic mother.
Alkuraya, "Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly," American Journal of Human Genetics, vol.