MCID: KLP003
MIFTS: 45

Klippel-Feil Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Ear diseases

Aliases & Classifications for Klippel-Feil Syndrome

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Aliases & Descriptions for Klippel-Feil Syndrome:

Name: Klippel-Feil Syndrome 10 23 46 12 36
Congenital Dystrophia Brevicollis 10 23
Cervical Vertebral Fusion 45 23
Klippel Feil Syndrome 45 24
Klippel-Feil Deformity, Deafness and Facial Asymmetry 10
Congenital Synostosis of Cervical Vertebrae 10
Klippel-Feil Syndrome, Autosomal Dominant 65
Autosomal Dominant Klippel-Feil Syndrome 10
Vertebral Cervical Fusion Syndrome 23
 
Cervical Vertebral Fusion Syndrome 23
Klippel-Feil and Turner Syndrome 10
Dystrophia Brevicollis Congenita 23
Fusion of Cervical Vertebrae 23
Cervical Fusion Syndrome 23
Klippel-Feil Deformity 23
Klippel-Feil Sequence 23
Kfs 23

Classifications:



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Disease Ontology10 DOID:10426
ICD1027 Q76.1
ICD9CM29 756.16
MeSH36 D007714
NCIt42 C98967
UMLS65 C0022738, C1861689

Summaries for Klippel-Feil Syndrome

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NIH Rare Diseases:45 Klippel feil syndrome (kfs) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. this condition can cause chronic headaches as well as pain in both the neck and the back. other features may involve various other body parts or systems. sometimes, kfs occurs as a feature of another disorder or syndrome, such as wildervanck syndrome or hemifacial microsomia. in these cases, affected people have the features of both kfs and the additional disorder. kfs may be caused by mutations in the gdf6 or gdf3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the meox1 gene and inherited in an autosomal recessive manner. treatment is symptomatic and may include medications, surgery, and/or physical therapy. last updated: 9/10/2015

MalaCards based summary: Klippel-Feil Syndrome, also known as congenital dystrophia brevicollis, is related to klippel-feil syndrome 1, autosomal dominant and klippel-feil syndrome 2. An important gene associated with Klippel-Feil Syndrome is GDF6 (Growth Differentiation Factor 6), and among its related pathways is TGF-beta Signaling Pathway (sino). Affiliated tissues include cervical vertebra, heart and bone, and related mouse phenotypes are limbs/digits/tail and embryo.

Disease Ontology:10 A physical disorder that has material basis in abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.

NINDS:46 Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more 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. The fused vertebrae can cause nerve damage and pain in the head, neck, or back. Associated abnormalities may include (curvature of the spine), (a birth defect of the spine), cleft palate, respiratory problems, and heart malformations. Other features may include joint pain; anomalies of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers; and difficulties hearing.

Genetics Home Reference:23 Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. 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:68 Klippel–Feil syndrome is a rare disease, initially reported in 1884 by Maurice Klippel and André Feil... more...

Related Diseases for Klippel-Feil Syndrome

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Diseases in the Klippel-Feil Syndrome family:

Klippel-Feil Syndrome 1, Autosomal Dominant Klippel-Feil Syndrome 3, Autosomal Dominant
Klippel-Feil Syndrome 2 Klippel-Feil Syndrome 1
Klippel-Feil Syndrome 3

Diseases related to Klippel-Feil Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1klippel-feil syndrome 1, autosomal dominant12.5
2klippel-feil syndrome 212.5
3klippel-feil syndrome 3, autosomal dominant12.5
4klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism12.5
5isolated klippel-feil syndrome12.4
6mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones12.3
7klippel-feil syndrome 312.3
8frontonasal dysplasia klippel feil syndrome12.2
9klippel-feil syndrome 112.2
10murcs association11.5
11mayer-rokitansky-küster-hauser syndrome type 211.4
12segmentation syndrome 111.2
13cervicitis10.8
14dermoid cyst10.5
15situs inversus10.4
16scoliosis10.4
17sprengel deformity10.4
18thoracic outlet syndrome10.3
19schizophrenia10.3
20quadriplegia10.3
21syringomyelia10.3
22craniosynostosis10.2
23hydrocephalus10.2
24meningocele10.2
25respiratory failure10.2
26meningitis10.2
27aortic coarctation10.2
28aneurysm10.2
29neurenteric cyst10.2
30leber congenital amaurosis 1710.2GDF3, GDF6
31microphthalmia, isolated 410.1GDF3, GDF6
32microphthalmia with coloboma 6, digenic10.1GDF3, GDF6
33pyruvate dehydrogenase phosphatase deficiency10.1GDF3, GDF6
34rheumatoid arthritis10.0
35asthma10.0
36fibrodysplasia ossificans progressiva10.0
37allergic rhinitis10.0
38rothmund-thomson syndrome10.0
39lipoma10.0
40pulmonary hypertension10.0
41anencephaly10.0
42arthritis10.0
43diamond-blackfan anemia10.0
44pseudoarthrosis10.0
45spinal cord injury10.0
46spinal stenosis10.0
47myelomeningocele10.0
48tonsillitis10.0
49pre-eclampsia10.0
50hypoparathyroidism10.0

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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Drugs & Therapeutics for Klippel-Feil Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry: Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Klippel-Feil Syndrome


Cochrane evidence based reviews: klippel-feil syndrome

Genetic Tests for Klippel-Feil Syndrome

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Anatomical Context for Klippel-Feil Syndrome

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MalaCards organs/tissues related to Klippel-Feil Syndrome:

33
Heart, Bone, Spinal cord, Brain, T cells, B cells, Tongue

FMA organs/tissues related to Klippel-Feil Syndrome:

16
Cervical vertebra

Animal Models for Klippel-Feil Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Klippel-Feil Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.4GDF6, MEOX1, PAX1, RIPPLY2
2MP:00053808.3GDF3, MEOX1, PAX1, RIPPLY2
3MP:00053908.2GDF6, MEOX1, PAX1, RIPPLY2
4MP:00053787.3GDF3, GDF6, MEOX1, PAX1, RIPPLY2

Publications for Klippel-Feil Syndrome

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Articles related to Klippel-Feil Syndrome:

(show top 50)    (show all 343)
idTitleAuthorsYear
1
Type II Klippel-Feil syndrome with accompanying rare costa deformity: rib fusion. (25937113)
2015
2
Repeated anesthetic management for a patient with Klippel-Feil syndrome. (25191983)
2014
3
Postsurgical pneumoencephaly in a patient with Klippel-Feil syndrome. (24429049)
2014
4
The multiple associations of Klippel-Feil syndrome. (24950730)
2014
5
Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect? (24339616)
2013
6
Surgical treatment of Klippel-Feil syndrome with basilar invagination. (22926486)
2013
7
Duplication of the mandible in Klippel-Feil syndrome. (23357707)
2013
8
Klippel-Feil syndrome associated with a craniocervico-thoracic dermoid cyst. (23646276)
2013
9
Cervical canal stenosis caused by progressive fusion and enlargement of cervical vertebrae with features of Proteus syndrome and Klippel-Feil syndrome. (23760594)
2013
10
Pentax-AWS video laryngoscope for tracheal intubation in a patient with Klippel-Feil syndrome. (24478859)
2013
11
Duplicated odontoid process and atlas clefts associated to Klippel-Feil syndrome. (22513073)
2012
12
Bilateral scaphotrapezium coalition with bilateral scaphoid nonunion in a patient with Klippel-Feil syndrome: a case report. (22379450)
2011
13
Omovertebral bone associated with Sprengel deformity and Klippel-Feil syndrome leading to cervical myelopathy. (20672958)
2010
14
Cor Triatrium in Klippel-Feil syndrome. (19327591)
2009
15
Klippel-Feil syndrome in association with posterior fossa dermoid tumour. (19229468)
2009
16
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. (18425797)
2008
17
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
18
Klippel-Feil syndrome with situs inversus--a rare association. (18474164)
2008
19
Klippel-Feil syndrome and Sprengel deformity combined with an intraspinal course of the left subclavian artery and a bovine aortic arch variant. (18024572)
2008
20
Cervical myelopathy in Klippel-Feil syndrome. (18975531)
2008
21
Klippel-Feil syndrome: a case report and current understanding of molecular genetic background. (17822192)
2007
22
Thoracic outlet syndrome portending Klippel-Feil syndrome. (16650793)
2006
23
Diagnostic importance of 3D CT images in Klippel-Feil Syndrome with multiple skeletal anomalies: a case report. (16374086)
2005
24
Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma. (15197508)
2004
25
Vertebral arterial dissection associated with Klippel-Feil syndrome in a child. (11935247)
2002
26
Klippel-Feil syndrome in the prehispanic population of El Hierro (Canary Islands). (11203718)
2001
27
Craniofacial characteristics of Klippel-Feil syndrome in an eight year old female. (11314151)
2000
28
Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum. (11045589)
2000
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
Neuroschisis of the cervical spinal cord in a patient with Klippel-Feil syndrome. (3587559)
1987
34
Management of Klippel-Feil syndrome: correction. (6502249)
1984
35
Combination of the Mayer-Rokitansky-KA1ster and Klippel-Feil syndrome--a case report and literature review. (7117655)
1982
36
Gallbladder agenesis in a patient with Klippel-Feil syndrome. (6895462)
1981
37
Absent ulna in the Klippel-Feil syndrome: an unusual associated malformation. (7363502)
1980
38
Klippel-Feil syndrome and deafness. A study with polytomography. (5026201)
1972
39
Pulmonary disability in the Klippel-Feil syndrome. A study of two siblings. (5361187)
1969
40
Klippel-Feil syndrome and bicuspid aortic valve: report of a case. (4224889)
1966
41
COR TRILOCULARE BIATRIATUM ASSOCIATED WITH KLIPPEL-FEIL SYNDROME. (14340814)
1965
42
KLIPPEL FEIL SYNDROME. A BRIEF REVIEW WITH REPORT OF 7 CASES. (14291035)
1965
43
Klippel-Feil syndrome. Syringomyelia, diastematomyelia, and myelomeningocele--one disease? (13896922)
1961
44
Brevicollis: Klippel-Feil syndrome; case report. (13491099)
1957
45
Case report: Klippel-Feil syndrome. (13186930)
1954
46
A case of Klippel-Feil syndrome in a Chinese naval rating. (14909194)
1952
47
Discussion of the Klippel-Feil syndrome; report of four cases. (18106444)
1949
48
An analysis of the Klippel-Feil syndrome. (21019989)
1946
49
A Case of Klippel-Feil Syndrome. (20784255)
1942
50

Variations for Klippel-Feil Syndrome

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Expression for genes affiliated with Klippel-Feil Syndrome

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Search GEO for disease gene expression data for Klippel-Feil Syndrome.

Pathways for genes affiliated with Klippel-Feil Syndrome

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Pathways related to Klippel-Feil Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5GDF3, GDF6

GO Terms for genes affiliated with Klippel-Feil Syndrome

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Biological processes related to Klippel-Feil Syndrome according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1sclerotome developmentGO:00610569.7MEOX1, PAX1
2regulation of MAPK cascadeGO:00434089.7GDF3, GDF6
3BMP signaling pathwayGO:00305099.6GDF3, GDF6
4SMAD protein signal transductionGO:00603959.5GDF3, GDF6
5positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.4GDF3, GDF6
6growthGO:00400079.2GDF3, GDF6
7somitogenesisGO:00017569.2PAX1, RIPPLY2
8bone morphogenesisGO:00603499.0PAX1, RIPPLY2

Sources for Klippel-Feil Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet