KFS
MCID: KLP003
MIFTS: 53

Klippel-Feil Syndrome (KFS) malady

Genetic diseases, Rare diseases, Ear diseases, Bone diseases categories

Summaries for Klippel-Feil Syndrome

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
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NINDS:45 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 cervicitis and situs inversus. 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, kidney and brain, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Disease Ontology:9 A physical disorder that has material basis in abnormal segementation of the vertebra during fetal development which results in fusion located in cervical vertebra.

Genetics Home Reference:22 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.

NIH Rare Diseases:44 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

Wikipedia:66 Klippel?Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and Andr more...

Description from OMIM:48 613702,118100

Aliases & Classifications for Klippel-Feil Syndrome

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9Disease Ontology, 22Genetics Home Reference, 45NINDS, 11DISEASES, 63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 59SNOMED-CT, 48OMIM, 28ICD9CM, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Ear diseases, Bone diseases


Aliases & Descriptions:

klippel-feil syndrome 9 22 45 11
klippel feil syndrome 44 21 23
klippel-feil syndrome, autosomal dominant 9 63
klippel-feil deformity, deafness, and facial asymmetry 9
cervical vertebral fusion autosomal recessive 44
cervical vertebral fusion autosomal dominant 44
klippel feil syndrome autosomal recessive 44
autosomal dominant klippel-feil syndrome 9
klippel feil syndrome autosomal dominant 44
vertebral cervical fusion syndrome 22
congenital dystrophia brevicollis 9
klippel-feil and turner syndrome 9
cervical vertebral fusion 44
cervical fusion syndrome 22
klippel-feil sequence 22
kfs 22


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Disease Ontology9 DOID:10426
ICD9CM28 756.16
MeSH36 D007714

Related Diseases for Klippel-Feil Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Klippel-Feil Syndrome:



Diseases related to klippel-feil syndrome

Symptoms for Klippel-Feil Syndrome

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48OMIM
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Clinical features from OMIM:

613702,118100

Drugs & Therapeutics for Klippel-Feil Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Klippel-Feil Syndrome

Genetic Tests for Klippel-Feil Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Klippel-Feil Syndrome:

id Genetic test Affiliating Genes
1 Klippel-Feil Syndrome21 GDF6
2 Klippel Feil Syndrome23

Anatomical Context for Klippel-Feil Syndrome

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34MalaCards, 15FMA
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MalaCards organs/tissues related to Klippel-Feil Syndrome:

34
Kidney, Brain, Heart, Spinal cord, Bone, Lung, Colon, Tonsil

FMA organs/tissues related to Klippel-Feil Syndrome:

15
Cervical vertebra

Animal Models for Klippel-Feil Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Klippel-Feil Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1TBX6, MEOX1, PAX1, GDF6
2MP:00053828.9GDF1, GDF6, PAX1, MEOX1
3MP:00053908.7TBX6, MEOX1, PAX1, GDF6, GDF1
4MP:00053808.7GDF1, GDF3, PAX1, MEOX1, TBX6
5MP:00036318.6TBX6, MEOX1, PAX1, GDF6, GDF1
6MP:00053788.3GDF1, GDF3, GDF6, PAX1, MEOX1, TBX6
7MP:00107688.0GDF1, GDF3, GDF6, PAX1, MEOX1, TBX6

Publications for Klippel-Feil Syndrome

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53PubMed
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Articles related to Klippel-Feil Syndrome:

(show top 50)    (show all 298)
idTitleAuthorsYear
1
Postsurgical pneumoencephaly in a patient with Klippel-Feil syndrome. (24429049)
2014
2
Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect? (24339616)
2013
3
Surgical treatment of Klippel-Feil syndrome with basilar invagination. (22926486)
2013
4
Duplication of the mandible in Klippel-Feil syndrome. (23357707)
2013
5
Klippel-Feil syndrome associated with a craniocervico-thoracic dermoid cyst. (23646276)
2013
6
Cervical canal stenosis caused by progressive fusion and enlargement of cervical vertebrae with features of Proteus syndrome and Klippel-Feil syndrome. (23760594)
2013
7
Duplicated odontoid process and atlas clefts associated to Klippel-Feil syndrome. (22513073)
2012
8
Bilateral scaphotrapezium coalition with bilateral scaphoid nonunion in a patient with Klippel-Feil syndrome: a case report. (22379450)
2011
9
Omovertebral bone associated with Sprengel deformity and Klippel-Feil syndrome leading to cervical myelopathy. (20672958)
2010
10
Cor Triatrium in Klippel-Feil syndrome. (19327591)
2009
11
Klippel-Feil syndrome in association with posterior fossa dermoid tumour. (19229468)
2009
12
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. (18425797)
2008
13
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
14
Klippel-Feil syndrome with situs inversus--a rare association. (18474164)
2008
15
Klippel-Feil syndrome and Sprengel deformity combined with an intraspinal course of the left subclavian artery and a bovine aortic arch variant. (18024572)
2008
16
Cervical myelopathy in Klippel-Feil syndrome. (18975531)
2008
17
Klippel-Feil syndrome: a case report and current understanding of molecular genetic background. (17822192)
2007
18
Thoracic outlet syndrome portending Klippel-Feil syndrome. (16650793)
2006
19
Klippel-Feil syndrome accompanied by an aneurysm of the non-coronary sinus of Valsalva. (17106170)
2006
20
Central cord syndrome in patients with Klippel-Feil syndrome resulting from winter sports: report of 3 cases. (16685084)
2006
21
Diagnostic importance of 3D CT images in Klippel-Feil Syndrome with multiple skeletal anomalies: a case report. (16374086)
2005
22
Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma. (15197508)
2004
23
Vertebral arterial dissection associated with Klippel-Feil syndrome in a child. (11935247)
2002
24
Investigations into the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel-Feil syndrome. (11950676)
2002
25
Klippel-Feil syndrome in the prehispanic population of El Hierro (Canary Islands). (11203718)
2001
26
Craniofacial characteristics of Klippel-Feil syndrome in an eight year old female. (11314151)
2000
27
Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum. (11045589)
2000
28
Iniencephaly in a live born and not Klippel Feil syndrome. (10745378)
1999
29
Association of posterior fossa dermoid cyst and Klippel-Feil syndrome. (9432185)
1998
30
The cervical spine in the Klippel-Feil syndrome. A report of 57 cases. (8557413)
1995
31
Klippel-Feil syndrome: patterns of bony fusion and wasp-waist sign. (8272889)
1993
32
Anomalous rib presenting as cervical myelopathy: a previously unreported variant of Klippel-Feil syndrome. Case report. (1869950)
1991
33
Klippel-Feil syndrome in association with a craniocervical dermoid cyst presenting as aseptic meningitis in an adult: case report. (2677824)
1989
34
Neuroschisis of the cervical spinal cord in a patient with Klippel-Feil syndrome. (3587559)
1987
35
Management of Klippel-Feil syndrome: correction. (6502249)
1984
36
Combination of the Mayer-Rokitansky-KA1ster and Klippel-Feil syndrome--a case report and literature review. (7117655)
1982
37
Gallbladder agenesis in a patient with Klippel-Feil syndrome. (6895462)
1981
38
Absent ulna in the Klippel-Feil syndrome: an unusual associated malformation. (7363502)
1980
39
Klippel-Feil syndrome and deafness. A study with polytomography. (5026201)
1972
40
Pulmonary disability in the Klippel-Feil syndrome. A study of two siblings. (5361187)
1969
41
Klippel-Feil syndrome and bicuspid aortic valve: report of a case. (4224889)
1966
42
COR TRILOCULARE BIATRIATUM ASSOCIATED WITH KLIPPEL-FEIL SYNDROME. (14340814)
1965
43
KLIPPEL FEIL SYNDROME. A BRIEF REVIEW WITH REPORT OF 7 CASES. (14291035)
1965
44
Klippel-Feil syndrome. Syringomyelia, diastematomyelia, and myelomeningocele--one disease? (13896922)
1961
45
Brevicollis: Klippel-Feil syndrome; case report. (13491099)
1957
46
Case report: Klippel-Feil syndrome. (13186930)
1954
47
A case of Klippel-Feil syndrome in a Chinese naval rating. (14909194)
1952
48
Discussion of the Klippel-Feil syndrome; report of four cases. (18106444)
1949
49
An analysis of the Klippel-Feil syndrome. (21019989)
1946
50
A Case of Klippel-Feil Syndrome. (20784255)
1942

Variations for Klippel-Feil Syndrome

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Expression for genes affiliated with Klippel-Feil Syndrome

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2BioGPS, 16Gene 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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51PathCards, 58SinoBiological
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Pathways related to Klippel-Feil Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4GDF6, GDF3, GDF1

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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17Gene Ontology
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Biological processes related to Klippel-Feil Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:0015019.8PAX1, GDF3
2mesoderm developmentGO:0074989.4TBX6, GDF3
3growthGO:0400079.3GDF6, GDF3, GDF1

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.4GDF6, GDF3, GDF1
2growth factor activityGO:0080839.1GDF6, GDF3, GDF1

Products for genes affiliated with Klippel-Feil Syndrome

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Sources for Klippel-Feil Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet