KFS
MCID: KLP003
MIFTS: 49

Klippel-Feil Syndrome (KFS) malady

Ear diseases category

Summaries for Klippel-Feil Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NINDS:43 Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of any 2 of the 7 cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Associated abnormalities may include (curvature of the spine), (a birth defect of the spine), anomalies of the kidneys and the ribs, cleft palate, respiratory problems, and heart malformations. The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers.

MalaCards: Klippel-Feil Syndrome, also known as klippel feil syndrome, is related to spondylocostal dysostosis and cervicitis. An important gene associated with Klippel-Feil Syndrome is GDF6 (growth differentiation factor 6), and among its related pathways is TGF-beta Signaling Pathway. Affiliated tissues include cervical vertebra, bone and kidney, and related mouse phenotypes are limbs/digits/tail and embryogenesis.

Disease Ontology:8 A congenital disorder that has material basis in abnormal segementation of the vertebra during fetal development which results in fusion located in cervical vertebra.

NIH Rare Diseases:42 Klippel feil syndrome is a musculoskeletal disorder that is present from birth. it is characterized by the fusion of at least two vertebrae of the neck. most cases are sporadic but in some cases, it can be inherited in an autosomal dominant or autosomal recessive fashion. common symptoms of klippel feil syndrome include short neck, low hairline at the back of the head, and restricted mobility of the upper spine. last updated: 7/26/2013

Genetics Home Reference:21 Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.

Wikipedia:63 Klippel–Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and André Feil... more...

Description from OMIM:46 118100,613702

Aliases & Classifications for Klippel-Feil Syndrome

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8Disease Ontology, 21Genetics Home Reference, 43NINDS, 10DISEASES, 60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 34MeSH, 56SNOMED-CT, 27ICD9CM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear diseases


Aliases & Descriptions:

klippel-feil syndrome 8 21 43 10
klippel feil syndrome 42 20 22
klippel-feil syndrome, autosomal dominant 8 60
klippel-feil deformity, deafness, and facial asymmetry 8
cervical vertebral fusion autosomal recessive 42
cervical vertebral fusion autosomal dominant 42
klippel feil syndrome autosomal recessive 42
autosomal dominant klippel-feil syndrome 8
klippel feil syndrome autosomal dominant 42
vertebral cervical fusion syndrome 21
congenital dystrophia brevicollis 8
klippel-feil and turner syndrome 8
cervical vertebral fusion 42
cervical fusion syndrome 21
klippel-feil sequence 21
kfs 21


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Disease Ontology8 DOID:10426
MeSH34 D007714
ICD9CM27 756.16

Related Diseases for Klippel-Feil Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Klippel-Feil Syndrome:



Diseases related to klippel-feil syndrome

Clinical Features for Klippel-Feil Syndrome

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46OMIM
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Clinical features from OMIM:

118100,613702

Drugs & Therapeutics for Klippel-Feil Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Klippel-Feil Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Klippel-Feil Syndrome

Search CenterWatch for Klippel-Feil Syndrome

Genetic Tests for Klippel-Feil Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Klippel-Feil Syndrome:

id Genetic test Affiliating Genes
1 Klippel-Feil Syndrome20 GDF6
2 Klippel Feil Syndrome22

Anatomical Context for Klippel-Feil Syndrome

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32MalaCards, 14FMA
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MalaCards organs/tissues related to Klippel-Feil Syndrome:

32
Bone, Kidney, Brain, Heart, Spinal cord, Lung, Colon, Tonsil

FMA organs/tissues related to Klippel-Feil Syndrome:

14
Cervical vertebra

Animal Models for Klippel-Feil Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Klippel-Feil Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1PAX1, GDF6, TBX6, MEOX1
2MP:00053808.9PAX1, GDF1, GDF3, TBX6, MEOX1
3MP:00053908.6MEOX1, TBX6, GDF6, GDF1, PAX1

Publications for Klippel-Feil Syndrome

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50PubMed
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Articles related to Klippel-Feil Syndrome:

(show top 50)    (show all 308)
idTitleAuthorsYear
1
Surgical treatment in a patient with Klippel-Feil syndrome and anterior cervical meningomyelocele: a case report and review of literature. (23580057)
2013
2
Vertebral artery dissection after neck extension in an adult patient with Klippel-Feil syndrome. (24156906)
2013
3
Persistent neck pain in a girl: Klippel-Feil syndrome. (24288136)
2013
4
An adult patient with Klippel-Feil syndrome presenting for repeat operation: a cautionary tale of the GlideScope. (22495084)
2012
5
Omovertebral bone associated with Sprengel deformity and Klippel-Feil syndrome leading to cervical myelopathy. (20672958)
2010
6
Anomaly of cervical vertebrae found on orthodontic examination: 8-year-old boy with cleft lip and palate diagnosed with Klippel-Feil syndrome. (20578872)
2010
7
Cervical myelopathy caused by pseudoarthrosis between posterior arch of the atlas and lamina of the axis in Klippel-Feil syndrome: a case report. (18458595)
2008
8
Posterior fossa dermoid cysts in association with Klippel-Feil syndrome: report of three cases. (17921233)
2007
9
Central cord syndrome in patients with Klippel-Feil syndrome resulting from winter sports: report of 3 cases. (16685084)
2006
10
Klippel-Feil syndrome associated with pneumatocyst of the right cervical rib. (16351035)
2005
11
Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: a new variant of Dubowitz syndrome? (16152634)
2005
12
Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma. (15197508)
2004
13
Multiple anesthetic challenges in a patient with Klippel-Feil Syndrome undergoing cardiac surgery. (12968241)
2003
14
Investigations into the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel-Feil syndrome. (11950676)
2002
15
Klippel-Feil syndrome - the risk of cervical spinal cord injury: a case report. (11985781)
2002
16
Klippel-Feil syndrome with cervical diastematomyelia in an 8-year-old boy. (11512004)
2001
17
Iniencephaly in a live born and not Klippel Feil syndrome. (10745378)
1999
18
Split cervical spinal cord with Klippel-Feil syndrome: seven cases. (9009993)
1996
19
Patterned expression in familial Klippel-Feil syndrome. (8761882)
1996
20
The cervical spine in the Klippel-Feil syndrome. A report of 57 cases. (8557413)
1995
21
Anaesthesia for caesarean section in a patient with Klippel-Feil syndrome. The use of a microspinal catheter. (7573874)
1995
22
Intraoperative nasotracheal to orotracheal tube change in a patient with Klippel-Feil syndrome. (7573935)
1995
23
The Klippel-Feil syndrome: implications for Naval service. (1620403)
1992
24
Klippel-Feil syndrome. (1739048)
1992
25
Anomalous rib presenting as cervical myelopathy: a previously unreported variant of Klippel-Feil syndrome. Case report. (1869950)
1991
26
Magnetic resonance imaging for stenosis and subluxation in Klippel-Feil syndrome. (1801268)
1991
27
The Klippel-Feil syndrome: a constellation of deformities. (2801071)
1989
28
Congenital duplication of mandibular rami in Klippel-Feil syndrome. (3861812)
1985
29
Klippel-Feil syndrome in children: clinical features and management. (3910229)
1985
30
Klippel-Feil syndrome with conductive deafness and histological findings of removed stapes. (6838112)
1983
31
Gallbladder agenesis in a patient with Klippel-Feil syndrome. (6895462)
1981
32
Ear deformities associated with the Klippel-Feil syndrome. (7271124)
1981
33
Recurrent pneumonia in Klippel-Feil syndrome. (7209814)
1981
34
Prolapse of the mitral valve in Klippel-Feil syndrome. (7449498)
1981
35
Klippel-Feil syndrome with Bell's palsy. (7239630)
1980
36
Traumatic quadriplegia associated with Klippel-Feil syndrome: discussion and case reports. (1156129)
1975
37
Klippel-Feil syndrome and associated hearing loss. (4703539)
1973
38
Hearing loss and the Klippel-Feil syndrome. (5026205)
1972
39
Deafness and the Klippel-Feil syndrome. (5787425)
1969
40
Mirror movements in patients with the Klippel-Feil syndrome. Neuropathologic observations. (5652995)
1968
41
ANOMALY OF THE VERTEBRAL COLUMN (KLIPPEL-FEIL SYNDROME) IN AMERICAN ABORIGINES. (14329999)
1965
42
Klippel-Feil syndrome. (13687712)
1961
43
A case of Klippel-Feil syndrome associated with hiatal hernia. (13611424)
1958
44
Lipoma of the spinal cord associated with Klippel-Feil syndrome. (13109563)
1953
45
The Klippel-Feil syndrome; etiology and treatment of neurologic signs. (13109509)
1953
46
Klippel-Feil syndrome in a full-term stillborn infant. (14890876)
1951
47
An analysis of the Klippel-Feil syndrome. (21019989)
1946
48
Oxycephaly associated with Klippel-Feil syndrome and other skeletal defects. (20986519)
1946
49
A Case of Klippel-Feil Syndrome. (20784255)
1942
50
The Klippel-Feil Syndrome. (17867163)
1934

Genetic Variations for Klippel-Feil Syndrome

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Expression for genes affiliated with Klippel-Feil Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Klippel-Feil Syndrome

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Pathways for genes affiliated with Klippel-Feil Syndrome

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55SinoBiological
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Pathways related to Klippel-Feil Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7GDF1, GDF3, GDF6

Compounds for genes affiliated with Klippel-Feil Syndrome

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GO Terms for genes affiliated with Klippel-Feil Syndrome

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16Gene Ontology
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Biological processes related to Klippel-Feil Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mesoderm developmentGO:0074989.9GDF3, TBX6
2growthGO:0400079.4GDF1, GDF3, GDF6

Molecular functions related to Klippel-Feil Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.7GDF1, GDF3, GDF6
2growth factor activityGO:0080839.4GDF1, GDF3, GDF6

Products for genes affiliated with Klippel-Feil Syndrome

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Sources for Klippel-Feil Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet