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 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:00053719.1MEOX1, TBX6, GDF6, PAX1
2MP:00053808.9PAX1, GDF1, TBX6, MEOX1, GDF3
3MP:00053908.6PAX1, MEOX1, TBX6, GDF6, GDF1

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 of Klippel-Feil syndrome with basilar invagination. (22926486)
2013
2
A case of Klippel-Feil syndrome with congenital enlarged Eustachian tube. (22301355)
2012
3
Failure of cervical arthroplasty in a patient with adjacent segment disease associated with Klippel-Feil syndrome. (21430874)
2011
4
Klippel-Feil syndrome and Dandy-Walker malformation. (22303802)
2011
5
Diagnosis and management of congenital rectourethral fistula in a child with long tubular duplication of the colon and Klippel-Feil syndrome. (22075355)
2011
6
Infantile erosive pustular dermatosis of the scalp associated with Klippel-Feil syndrome. (20169313)
2010
7
Disc prolapse and cord contusion in a case of Klippel-Feil syndrome following minor trauma. (19838373)
2009
8
Agenesis of the right internal carotid artery and Klippel-Feil syndrome: case report. (19752694)
2009
9
Surgery of a sacral malformation in a Klippel-Feil syndrome. (19693544)
2009
10
Klippel-Feil syndrome accompanied by pulmonary artery sling. (18277042)
2008
11
"Bone block" and congenital spine deformity. Diagnosis: Klippel-Feil syndrome with congenital scoliosis. (18695783)
2008
12
Bryan artificial cervical disc arthroplasty in a patient with Klippel-Feil syndrome. (17914149)
2007
13
Adult Klippel-Feil syndrome: haemodynamic instability in the prone position and postoperative respiratory failure. (17323681)
2007
14
Monozygotic twins discordant for Klippel-Feil syndrome. (16376286)
2006
15
Postoperative massive macroglossia in Klippel-Feil syndrome after posterior occipitocervical fixation surgery in the sitting position. (16770225)
2006
16
The Klippel-Feil syndrome: a case report. (15530267)
2004
17
Klippel-Feil syndrome plus atretic meningocele in one identical twin and anencephaly in the other. (14517591)
2003
18
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. (11746040)
2001
19
No neurological involvement for more than 40 years in Klippel-Feil syndrome with severe hypermobility of the upper cervical spine. (11195133)
2001
20
Posterior fossa dermoid in association with Klippel-Feil syndrome--a short report. (11447453)
2001
21
Assessment and neurologic involvement of patients with cervical spine congenital synostosis as in Klippel-Feil syndrome: study of 19 cases. (9702666)
1998
22
The long-term follow-up of patients with Klippel-Feil syndrome and congenital scoliosis. (9201859)
1997
23
Anaesthetic management of labour in two patients with Klippel-Feil syndrome. (15321350)
1996
24
Thenar hypoplasia in Klippel-Feil syndrome due to aberrant radial artery. (8771173)
1995
25
Klippel-Feil syndrome with congenital conductive deafness: report of a case and review of literature. (8436466)
1993
26
Pulmonary developmental anomaly associated with Klippel-Feil syndrome and anomalous atrioventricular conduction. (1555440)
1992
27
Cervical neurenteric cyst associated with Klippel-Feil syndrome: a case report and review of the literature. (1764851)
1991
28
Klippel-Feil syndrome in two Ethiopian children. (2001690)
1991
29
Sudden onset of velopharyngeal insufficiency in Klippel-Feil syndrome. (2397709)
1990
30
Anaesthetic considerations in Klippel-Feil syndrome. (3948050)
1986
31
A case of schizophrenia with the Klippel-Feil syndrome. (3842735)
1985
32
Management of Klippel-Feil syndrome: correction. (6502249)
1984
33
Combination of the Mayer-Rokitansky-KA1ster and Klippel-Feil syndrome--a case report and literature review. (7117655)
1982
34
Klippel-Feil syndrome with cervical compression resulting from cervical subluxation in association with an omo-vertebral bone. (7455779)
1980
35
Stapes gusher and Klippel-Feil syndrome. (672351)
1978
36
Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents. (933127)
1976
37
The Klippel-Feil syndrome. A rare cause of cervico-facial deformity. (1063014)
1976
38
The Klippel-Feil syndrome: early roentgenographic appearance and progression of the deformity. A reprot of two cases. (956239)
1976
39
Klippel-Feil syndrome. (4698402)
1973
40
The association of cleft palate with the Klippel-Feil syndrome. (4501166)
1972
41
Pulmonary disability in the Klippel-Feil syndrome. A study of two siblings. (5361187)
1969
42
Klippel-Feil syndrome with unexplained apparent conductive hearing loss. A case report. (5765238)
1969
43
A case of Klippel-Feil syndrome. (5641572)
1968
44
COR TRILOCULARE BIATRIATUM ASSOCIATED WITH KLIPPEL-FEIL SYNDROME. (14340814)
1965
45
KLIPPEL FEIL SYNDROME. A BRIEF REVIEW WITH REPORT OF 7 CASES. (14291035)
1965
46
DIASTEMATOMYELIA AND THE KLIPPEL-FEIL SYNDROME. RELATIONSHIP TO HYDROCEPHALUS, SYRINGOMYELIA, MENINGOCELE, MENINGOMYELOCELE, AND INIENCEPHALUS. (14105037)
1964
47
Klippel-Feil syndrome. Syringomyelia, diastematomyelia, and myelomeningocele--one disease? (13896922)
1961
48
Case report: Klippel-Feil syndrome. (13186930)
1954
49
Klippel-Feil syndrome with associated deformities; a report of three cases. (14891406)
1952
50
THE KLIPPEL-FEIL SYNDROME: NUMERICAL REDUCTION OF CERVICAL VERTEBRAE. (17865362)
1925

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