KFS
MCID: KLP003
MIFTS: 48

Klippel-Feil Syndrome (KFS) malady

Ear category

Summaries for Klippel-Feil Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 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 n syndrome. 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, brain and spinal cord, 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:43 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:64 Klippel–Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and André Feil... more...

Description from OMIM:47 118100,613702

Aliases & Classifications for Klippel-Feil Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 10DISEASES, 61UMLS, 47OMIM, 35MeSH, 57SNOMED-CT, 27ICD9CM
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Classifications:

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


Aliases & Descriptions:

klippel-feil syndrome 8 21 44 10
klippel feil syndrome 43 20 22
klippel-feil syndrome, autosomal dominant 8 61
klippel-feil deformity, deafness, and facial asymmetry 8
cervical vertebral fusion autosomal recessive 43
cervical vertebral fusion autosomal dominant 43
klippel feil syndrome autosomal recessive 43
autosomal dominant klippel-feil syndrome 8
klippel feil syndrome autosomal dominant 43
vertebral cervical fusion syndrome 21
congenital dystrophia brevicollis 8
klippel-feil and turner syndrome 8
cervical vertebral fusion 43
cervical fusion syndrome 21
klippel-feil sequence 21
kfs 21


External Ids:

Disease Ontology8 DOID:10426
MeSH35 D007714
ICD9CM27 756.16

Related Diseases for Klippel-Feil Syndrome

Sources:
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

Sources:
47OMIM
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Clinical features from OMIM:

118100,613702

Drugs & Therapeutics for Klippel-Feil Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Klippel-Feil Syndrome

Drug clinical trials:

Search ClinicalTrials for Klippel-Feil Syndrome

Search NIH Clinical Center for Klippel-Feil Syndrome

Search CenterWatch for Klippel-Feil Syndrome

Genetic Tests for Klippel-Feil Syndrome

Sources:
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

Sources:
14FMA, 33MalaCards
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MalaCards organs/tissues related to Klippel-Feil Syndrome:

33
Brain, Spinal cord, Heart, Colon, Kidney, Lung, Tonsil, Fetal brain, Fetal lung

FMA organs/tissues related to Klippel-Feil Syndrome:

14
Cervical vertebra

Animal Models for Klippel-Feil Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Klippel-Feil Syndrome:

37
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

Sources:
51PubMed
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Articles related to Klippel-Feil Syndrome:

(show top 50)    (show all 308)
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
Klippel Feil syndrome with occipital encephalocele, duodenal web, left pelvic kidney, ASD, anorectal malformation fetal and postnatal imaging. (23443296)
2013
4
Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. (24073994)
2013
5
Elective cesarean delivery in a parturient with Klippel-Feil syndrome. (23993802)
2013
6
Bilateral scaphotrapezium coalition with bilateral scaphoid nonunion in a patient with Klippel-Feil syndrome: a case report. (22379450)
2011
7
Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry. (21414820)
2011
8
Posterior occipitocervical fixation under skull-femoral traction for the treatment of basilar impression in a child with Klippel-Feil syndrome. (22058314)
2011
9
Sublabial approach for the treatment of symptomatic basilar impression in a patient with Klippel-Feil syndrome. (21415781)
2011
10
Klippel-Feil syndrome: a case report. (21809613)
2010
11
Anesthesia for tonsillectomy in a child with Klippel-Feil Syndrome associated with Down Syndrome. Case report. (20682163)
2010
12
Rheumatoid arthritis, Klippel-Feil syndrome and Pott's disease in Cardinal Carlo de' Medici (1595-1666). (19772790)
2009
13
Klippel-Feil syndrome and associated ear anomalies. (18722888)
2008
14
Klippel-Feil syndrome. (18272131)
2008
15
Thoracic outlet syndrome portending Klippel-Feil syndrome. (16650793)
2006
16
Chiari I malformation accompanied by assimilation of the atlas, Klippel-Feil syndrome, and syringomyelia: case report. (16630916)
2006
17
Dento-skeletal implications of Klippel-Feil syndrome [a case report]. (15768912)
2005
18
Rubral lateropulsion due to vertebral artery dissection in a patient with Klippel-Feil syndrome. (15096409)
2004
19
Klippel-Feil syndrome associated with aortic coarctation. (12684171)
2003
20
Removal of an anterior spinal dermoid cyst with fenestra corpectomy in Klippel-Feil syndrome: technical case report. (14580293)
2003
21
Lumbar split cord malformation and Klippel-Feil syndrome. (14734864)
2003
22
Vertebral arterial dissection associated with Klippel-Feil syndrome in a child. (11935247)
2002
23
Modified Z-plasty repair of webbed neck deformity seen in Turner and Klippel-Feil syndrome. (12019001)
2002
24
Anesthetic management of a patient with Klippel-Feil syndrome. (14566548)
2001
25
The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology. (16972746)
1999
26
Klippel-feil syndrome-appropos of a case. (23119461)
1998
27
The natural history of Klippel-Feil syndrome: clinical, roentgenographic, and magnetic resonance imaging findings at adulthood. (7593574)
1995
28
Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3). (8533765)
1995
29
Klippel-Feil syndrome in association with a craniocervical dermoid cyst presenting as aseptic meningitis in an adult: case report. (2677824)
1989
30
Klippel-Feil syndrome and conductive deafness. (2584855)
1989
31
Klippel-Feil syndrome with neck pain. (2723057)
1989
32
Fibreoptic intubation in Klippel-Feil syndrome. (3344941)
1988
33
Traumatic quadriplegia after minor trauma in the Klippel-Feil syndrome. (3424045)
1987
34
Quadriplegia after minor trauma in the Klippel-Feil syndrome. A case report and review of the literature. (6501345)
1984
35
The incidence of Klippel-Feil syndrome in patients with congenital scoliosis and kyphosis. (6474250)
1984
36
Frontonasal dysplasia in the Klippel-Feil syndrome: a new associated malformation. (7151311)
1982
37
Absent ulna in the Klippel-Feil syndrome: an unusual associated malformation. (7363502)
1980
38
Anterior decompression for progressive brain stem compression in the Klippel-Feil syndrome. (729167)
1978
39
Ectopic lungs in a human fetus with Klippel-Feil syndrome. (603069)
1977
40
Klippel-Feil syndrome; a constellation of associated anomalies. (4436358)
1974
41
Klippel-Feil syndrome and deafness. A study with polytomography. (5026201)
1972
42
Cleft palate associated with Klippel-Feil syndrome. Report of a case. (5254561)
1969
43
The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion. (4867516)
1967
44
Klippel-Feil syndrome and bicuspid aortic valve: report of a case. (4224889)
1966
45
Klippel-Feil syndrome and cleft palate. (4158712)
1965
46
Congenital paralysis of lateral conjugate gaze; occurrence in a case of Klippel-Feil syndrome. (13507787)
1958
47
Brevicollis: Klippel-Feil syndrome; case report. (13491099)
1957
48
Surgical treatment of the Klippel-Feil syndrome. (13331990)
1956
49
Mediastinal bronchogenic cyst and Klippel-Feil syndrome; report of a case. (12990339)
1952
50
Clinical and roentgenological manifestations of the Klippel-Feil syndrome (congenital fusion of the cervical vertebrae, brevicollis); report of eight additional cases and review of the literature. (14952613)
1952

Genetic Variations for Klippel-Feil Syndrome

Expression for genes affiliated with Klippel-Feil Syndrome

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

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

Pathways for genes affiliated with Klippel-Feil Syndrome

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56SinoBiological
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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

GO Terms for genes affiliated with Klippel-Feil Syndrome

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet