MCID: KLP003
MIFTS: 48

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 . Affiliated tissues include cervical vertebra, bone and brain, 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 271)
idRelated DiseaseScoreTop Affiliating Genes
1klippel-feil syndrome 1, autosomal dominant12.9
2klippel-feil syndrome 212.9
3klippel-feil syndrome 3, autosomal dominant12.9
4klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism12.8
5isolated klippel-feil syndrome12.8
6mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones12.7
7klippel-feil syndrome 312.7
8frontonasal dysplasia klippel feil syndrome12.6
9klippel-feil syndrome 112.6
10murcs association11.9
11mayer-rokitansky-küster-hauser syndrome type 211.8
12segmentation syndrome 111.6
13hepatitis10.7
14leukemia10.6
15endotheliitis10.6
16cervicitis10.6
17retinitis10.6
18adenoma10.6
19encephalitis10.6
20lymphoma10.5
21myeloma10.5
22prostatitis10.5
23hepatitis c10.5
24dermatitis10.5
25adenocarcinoma10.5
26atopic dermatitis10.5
27neuronitis10.5
28schizophrenia10.4
29colorectal cancer10.4
30prostate cancer10.4
31hepatitis c virus10.4
32multiple myeloma10.4
33retinoblastoma10.4
34b-cell lymphomas10.4
35burns10.4
36hepatic coma10.4
37addison's disease10.4
38cholera10.4
39melanoma10.4
40gastroenteritis10.4
41basal cell carcinoma10.4
42gingivitis10.4
43cerebritis10.4
44myopathy10.4
45pancreatitis10.4
46infertility10.4
47pneumonia10.4
48rheumatoid arthritis10.3
49myocardial infarction10.3
50systemic lupus erythematosus10.3

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
Bone, Brain, Heart, Spinal cord, Liver, T cells, Neutrophil

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 335)
idTitleAuthorsYear
1
Milk allergy is a minor cause of milk avoidance due to perceived hypersensitivity among schoolchildren in Northern Sweden. (26518972)
2016
2
Expression of circulating microRNA-20a and let-7a in esophageal squamous cell carcinoma. (25914476)
2015
3
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. (24524299)
2014
4
Late onset of atypical paroxysmal non-kinesigenic dyskinesia with remote history of Graves' disease. (24347956)
2013
5
DNA methylation in interleukin-11 predicts clinical response to antidepressants in GENDEP. (24002086)
2013
6
Interleukin-3-Deficient Mice Have Increased Resistance to Blood-Stage Malaria. (24379292)
2013
7
Sequence and structure based assessment of nonsynonymous SNPs in hypertrichosis universalis. (22553388)
2012
8
Electrodiagnostic criteria for Guillain-BarrA" syndrome: a critical revision and the need for an update. (22480600)
2012
9
R-flurbiprofen, a novel nonsteroidal anti-inflammatory drug, decreases cell proliferation and induces apoptosis in pituitary adenoma cells in vitro. (21938529)
2012
10
Lues maligna and Bell's palsy: report of a case in a immunocompetent host. (23067087)
2012
11
Systemic lupus erythematosus (SLE) cerebritis versus Listeria monocytogenes meningoencephalitis in a patient with systemic lupus erythematosus on chronic corticosteroid therapy: the diagnostic importance of cerebrospinal fluid (CSF) of lactic acid levels. (22177759)
2012
12
The role of transcription factor Tcfap2c/TFAP2C in trophectoderm development. (22560121)
2012
13
The protective effect and action mechanism of Vaccinium myrtillus L. on gastric ulcer in mice. (21290441)
2011
14
Profile of adipose tissue gene expression in premenopausal and postmenopausal women: site-specific differences. (21358552)
2011
15
Marathon of eponyms: 14 Noonan syndrome. (20946318)
2010
16
Gene expression meta-analysis identifies chromosomal regions and candidate genes involved in breast cancer metastasis. (18293085)
2009
17
Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies. (19683984)
2009
18
Immunoglobulin genes and T-cell receptors as molecular markers in children with acute lymphoblastic leukaemia]. (19764592)
2009
19
CAG repeat lengths > or =335 attenuate the phenotype in the R6/2 Huntington's disease transgenic mouse. (19027857)
2009
20
Cholinergic neuronal and axonal abnormalities are present early in aging and in Alzheimer disease. (18379437)
2008
21
Central mucoepidermoid carcinoma: report of 2 cases. (17537557)
2008
22
Insulin resistance and postprandial hyperglycemia the bad companions in natural history of diabetes: effects on health of vascular tree. (18220686)
2007
23
Dental fluorosis in cohorts born before, during, and after the national salt fluoridation program in a community in Mexico. (16829495)
2006
24
Lysophosphatidic acid increases phosphatidic acid formation, phospholipase D activity and degranulation by human neutrophils. (15451027)
2005
25
Progesterone-induced inhibition of growth and differential regulation of gene expression in PRA- and/or PRB-expressing endometrial cancer cell lines. (15866122)
2005
26
US with contrast medium in the diagnosis of abdominal Castleman's disease. (15906800)
2005
27
The Ets transcription factor Fev is specifically expressed in the human central serotonergic neurons. (15003288)
2004
28
Lipoxygenase interactions with natural flavonoid, quercetin, reveal a complex with protocatechuic acid in its X-ray structure at 2.1 A resolution. (14705020)
2004
29
The cytosolic II-III loop of Cav2.3 provides an essential determinant for the phorbol ester-mediated stimulation of E-type Ca2+ channel activity. (15147300)
2004
30
Solid-state NMR reveals structural changes in phospholamban accompanying the functional regulation of Ca2+-ATPase. (12556441)
2003
31
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. (11857740)
2002
32
N-CoR controls differentiation of neural stem cells into astrocytes. (12410313)
2002
33
Pulsatile growth hormone secretion persists in genetic growth hormone-releasing hormone resistance. (11882517)
2002
34
High dose growth hormone treatment induces acceleration of skeletal maturation and an earlier onset of puberty in children with idiopathic short stature. (12193430)
2002
35
Terbinafine-induced hepatic dysfunction. (11564966)
2001
36
Involvement of protein kinase C, tyrosine kinases, and Rho kinase in Ca(2+) handling of human small arteries. (10993789)
2000
37
Tissue inhibitor of metalloproteinase (TIMP)-2 acts synergistically with synthetic matrix metalloproteinase (MMP) inhibitors but not with TIMP-4 to enhance the (Membrane type 1)-MMP-dependent activation of pro-MMP-2. (10998420)
2000
38
Panclavicular ankylosis in pustulotic arthroosteitis. A case report. (10078137)
1999
39
Bilateral adrenal cortical adenomas in primary hyperaldosteronism. (9763101)
1998
40
The efficacy and distribution of suramin in the treatment of the 9L gliosarcoma. (8177391)
1994
41
Analysis of the variations of clinical test data on fasting therapy using fuzzy similarity dendrogram]. (8295349)
1993
42
Immunohistochemical features of giant cell carcinoma of the lung: patterns of expression of cytokeratins, vimentin, and the mucinous glycoprotein recognized by monoclonal antibody A-80. (1710080)
1991
43
Farmer's lung after Mycoplasma pneumoniae infection. (3704970)
1986
44
Massive hepatobiliary ascariasis in childhood. (7248718)
1981
45
Effect of sulphapyridine, 5-aminosalicylic acid, and placebo in patients with idiopathic proctitis: a study to determine the active therapeutic moiety of sulphasalazine. (6107263)
1980
46
Human phosphoribosylpyrophosphate synthetase. Distribution, purification, and properties. (4328836)
1971
47
Blowout fracture of the orbital roof with pulsating exophthalmos, blepharoptosis, and superior gaze paresis. (5562511)
1971
48
Immediate treatment to prevent aspiration pneumonitis. (13896479)
1962
49
Streptomycin therapy in granuloma inguinale. (15407931)
1949
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
9.5

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