MCID: KLP003
MIFTS: 46

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 11 25 48 38 13
Congenital Dystrophia Brevicollis 11 25
Cervical Vertebral Fusion 47 25
Klippel Feil Syndrome 47 26
Klippel-Feil Deformity, Deafness and Facial Asymmetry 11
Congenital Synostosis of Cervical Vertebrae 11
Klippel-Feil Syndrome, Autosomal Dominant 67
Autosomal Dominant Klippel-Feil Syndrome 11
Vertebral Cervical Fusion Syndrome 25
 
Cervical Vertebral Fusion Syndrome 25
Klippel-Feil and Turner Syndrome 11
Dystrophia Brevicollis Congenita 25
Fusion of Cervical Vertebrae 25
Cervical Fusion Syndrome 25
Klippel-Feil Deformity 25
Klippel-Feil Sequence 25
Kfs 25

Classifications:



External Ids:

Disease Ontology11 DOID:10426
ICD1029 Q76.1
ICD9CM31 756.16
MeSH38 D007714
NCIt44 C98967

Summaries for Klippel-Feil Syndrome

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Genetics Home Reference:25 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.

MalaCards based summary: Klippel-Feil Syndrome, also known as congenital dystrophia brevicollis, is related to klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism and klippel-feil syndrome 1, autosomal dominant. An important gene associated with Klippel-Feil Syndrome is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include cervical vertebra, bone and spinal cord, and related mouse phenotypes are limbs/digits/tail and embryo.

Disease Ontology:11 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:48 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

Wikipedia:70 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 Klippel-Feil Syndrome 4

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

(show top 50)    (show all 95)
idRelated DiseaseScoreTop Affiliating Genes
1klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism12.6
2klippel-feil syndrome 1, autosomal dominant12.5
3klippel-feil syndrome 212.5
4klippel-feil syndrome 3, autosomal dominant12.5
5mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones12.3
6isolated klippel-feil syndrome12.2
7klippel-feil syndrome 312.1
8klippel-feil syndrome 412.1
9frontonasal dysplasia klippel feil syndrome12.1
10klippel-feil syndrome 112.1
11murcs association11.4
12mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies11.2
13segmentation syndrome 111.1
14cervicitis10.7
15dermoid cyst10.4
16diastematomyelia10.3
17sprengel deformity10.2
18scoliosis10.2
19thoracic outlet syndrome10.2
20leber congenital amaurosis 1710.1GDF3, GDF6
21schizophrenia10.1
22quadriplegia10.1
23syringomyelia10.1
24microphthalmia, isolated 410.1GDF3, GDF6
25microphthalmia with coloboma 6, digenic10.1GDF3, GDF6
26pyruvate dehydrogenase phosphatase deficiency10.1GDF3, GDF6
27craniosynostosis10.0
28hydrocephalus10.0
29meningocele10.0
30respiratory failure10.0
31meningitis10.0
32aortic coarctation10.0
33aneurysm10.0
34neurenteric cyst10.0
35ispd-related muscle diseases10.0GDF3, GDF6
36partial optic atrophy10.0GDF3, GDF6
37rheumatoid arthritis9.9
38asthma9.9
39fibrodysplasia ossificans progressiva9.9
40allergic rhinitis9.9
41rothmund-thomson syndrome9.9
42lipoma9.9
43macroglossia9.9
44coarctation of aorta9.9
45anencephaly9.9
46pulmonary hypertension9.9
47arthritis9.9
48diamond-blackfan anemia9.9
49pseudoarthrosis9.9
50spinal cord injury9.9

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 & Natural History Study - 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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Genetic tests related to Klippel-Feil Syndrome:

id Genetic test Affiliating Genes
1 Klippel Feil Syndrome26

Anatomical Context for Klippel-Feil Syndrome

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MalaCards organs/tissues related to Klippel-Feil Syndrome:

35
Bone, Spinal cord, Lung, Kidney, Heart, Tonsil, Brain

FMA organs/tissues related to Klippel-Feil Syndrome:

17
Cervical vertebra

Animal Models for Klippel-Feil Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Klippel-Feil Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9GDF6, MEOX1, PAX1, RIPPLY2
2MP:00053808.9GDF3, MEOX1, PAX1, RIPPLY2
3MP:00053788.4GDF3, GDF6, MEOX1, PAX1, RIPPLY2
4MP:00053908.2GDF6, MEOX1, PAX1, RIPPLY2

Publications for Klippel-Feil Syndrome

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Articles related to Klippel-Feil Syndrome:

(show top 50)    (show all 353)
idTitleAuthorsYear
1
Surgical Treatment of Occipitocervical Dislocation with Atlas Assimilation and Klippel-Feil Syndrome Using Occipitalized C1 lateral Mass and C2 Fixation and Reduction Technique. (27465418)
2016
2
Two Cases of Klippel-Feil Syndrome with Cervical Myelopathy Successfully Treated by Simple Decompression without Fixation. (26512291)
2015
3
Case images: A case of Klippel-Feil syndrome with congenital cardiovascular anomalies. (26148087)
2015
4
The success of direct laryngoscopy in children with Klippel-Feil syndrome. (26381356)
2015
5
Repeated anesthetic management for a patient with Klippel-Feil syndrome. (25191983)
2014
6
Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect? (24339616)
2013
7
Klippel-Feil syndrome associated with a craniocervico-thoracic dermoid cyst. (23646276)
2013
8
Duplicated odontoid process and atlas clefts associated to Klippel-Feil syndrome. (22513073)
2012
9
Failure of cervical arthroplasty in a patient with adjacent segment disease associated with Klippel-Feil syndrome. (21430874)
2011
10
Anesthetic management of a parturient with type III Klippel-Feil syndrome. (21134737)
2011
11
Omovertebral bone associated with Sprengel deformity and Klippel-Feil syndrome leading to cervical myelopathy. (20672958)
2010
12
Dental team management for a patient with Klippel-Feil syndrome: case report. (19886936)
2009
13
Disc prolapse and cord contusion in a case of Klippel-Feil syndrome following minor trauma. (19838373)
2009
14
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. (18425797)
2008
15
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
16
Klippel-Feil syndrome: a case report and current understanding of molecular genetic background. (17822192)
2007
17
Bryan artificial cervical disc arthroplasty in a patient with Klippel-Feil syndrome. (17914149)
2007
18
Klippel-Feil syndrome accompanied by an aneurysm of the non-coronary sinus of Valsalva. (17106170)
2006
19
Central cord syndrome in patients with Klippel-Feil syndrome resulting from winter sports: report of 3 cases. (16685084)
2006
20
Diagnostic importance of 3D CT images in Klippel-Feil Syndrome with multiple skeletal anomalies: a case report. (16374086)
2005
21
Dento-skeletal implications of Klippel-Feil syndrome [a case report]. (15768912)
2005
22
Klippel-Feil syndrome with associated agenesis of lung and gall bladder presenting with asthma and allergic rhinitis. (15951885)
2005
23
Klippel-Feil syndrome presenting with bilateral thoracic outlet syndrome. (15959383)
2005
24
Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome: clues from the BMP signaling pathway. (15959366)
2005
25
Klippel-Feil syndrome associated with aortic coarctation. (12684171)
2003
26
Klippel-Feil syndrome plus atretic meningocele in one identical twin and anencephaly in the other. (14517591)
2003
27
Vertebral arterial dissection associated with Klippel-Feil syndrome in a child. (11935247)
2002
28
Klippel-Feil syndrome in the prehispanic population of El Hierro (Canary Islands). (11203718)
2001
29
Craniofacial characteristics of Klippel-Feil syndrome in an eight year old female. (11314151)
2000
30
Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum. (11045589)
2000
31
Iniencephaly in a live born and not Klippel Feil syndrome. (10745378)
1999
32
Association of posterior fossa dermoid cyst and Klippel-Feil syndrome. (9432185)
1998
33
Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies. A new syndrome? (8255647)
1993
34
Congenital duplication of mandibular rami in Klippel-Feil syndrome. (3861812)
1985
35
A case of schizophrenia with the Klippel-Feil syndrome. (3842735)
1985
36
Ectopic lungs in a human fetus with Klippel-Feil syndrome. (603069)
1977
37
Crossed fusion of renal pelves and Klippel-Feil syndrome. (933266)
1976
38
Klippel-Feil syndrome and deafness. A study with polytomography. (5026201)
1972
39
Klippel-Feil syndrome and bicuspid aortic valve: report of a case. (4224889)
1966
40
COR TRILOCULARE BIATRIATUM ASSOCIATED WITH KLIPPEL-FEIL SYNDROME. (14340814)
1965
41
KLIPPEL FEIL SYNDROME. A BRIEF REVIEW WITH REPORT OF 7 CASES. (14291035)
1965
42
Klippel-Feil syndrome and cleft palate. (4158712)
1965
43
DIASTEMATOMYELIA AND THE KLIPPEL-FEIL SYNDROME. RELATIONSHIP TO HYDROCEPHALUS, SYRINGOMYELIA, MENINGOCELE, MENINGOMYELOCELE, AND INIENCEPHALUS. (14105037)
1964
44
Brevicollis: Klippel-Feil syndrome; case report. (13491099)
1957
45
Case report: Klippel-Feil syndrome. (13186930)
1954
46
Klippel-Feil syndrome with associated deformities; a report of three cases. (14891406)
1952
47
Klippel-Feil syndrome with multiple cysts of the jawbones. (14929542)
1952
48
Discussion of the Klippel-Feil syndrome; report of four cases. (18106444)
1949
49
Klippel-Feil syndrome; review of the literature and report of a case. (18113306)
1949
50
A Case of Klippel-Feil Syndrome. (20784255)
1942

Variations for Klippel-Feil Syndrome

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Clinvar genetic disease variations for Klippel-Feil Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GDF6NM_001001557.3(GDF6): c.746C> A (p.Ala249Glu)SNVPathogenicrs121909352GRCh37Chr 8, 97157413: 97157413
2GDF6NM_001001557.3(GDF6): c.1271A> G (p.Lys424Arg)SNVPathogenicrs121909353GRCh37Chr 8, 97156888: 97156888

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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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 10)
idNameGO IDScoreTop Affiliating Genes
1sclerotome developmentGO:006105610.0MEOX1, PAX1
2SMAD protein signal transductionGO:00603959.9GDF3, GDF6
3growthGO:00400079.9GDF3, GDF6
4positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.8GDF3, GDF6
5cell developmentGO:00484689.7GDF3, GDF6
6somite rostral/caudal axis specificationGO:00325259.7GDF3, RIPPLY2
7regulation of MAPK cascadeGO:00434089.5GDF3, GDF6
8bone morphogenesisGO:00603499.1PAX1, RIPPLY2
9skeletal system developmentGO:00015019.0GDF3, PAX1
10somitogenesisGO:00017568.9PAX1, RIPPLY2

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor bindingGO:000516010.0GDF3, GDF6
2growth factor activityGO:00080839.5GDF3, GDF6
3cytokine activityGO:00051259.2GDF3, GDF6

Sources for Klippel-Feil Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet