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 49 39 13
Congenital Dystrophia Brevicollis 11 25
Cervical Vertebral Fusion 48 25
Klippel Feil Syndrome 48 27
Klippel-Feil Deformity, Deafness and Facial Asymmetry 11
Congenital Synostosis of Cervical Vertebrae 11
Klippel-Feil Syndrome, Autosomal Dominant 68
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:



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Disease Ontology11 DOID:10426
ICD1030 Q76.1
ICD9CM32 756.16
MeSH39 D007714
NCIt45 C98967

Summaries for Klippel-Feil Syndrome

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NIH Rare Diseases:48 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 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), and among its related pathways 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.

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.

NINDS:49 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:71 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 & Phenotypes for Klippel-Feil Syndrome

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MGI Mouse Phenotypes related to Klippel-Feil Syndrome according to GeneCards Suite gene sharing:

41
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

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 Syndrome27

Anatomical Context for Klippel-Feil Syndrome

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MalaCards organs/tissues related to Klippel-Feil Syndrome:

36
Bone, Spinal cord, Lung, Kidney, Heart, Tonsil, Brain

FMA organs/tissues related to Klippel-Feil Syndrome:

17
Cervical vertebra

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
Klippel-Feil syndrome with butterfly vertebrae: rare case. (27032897)
2016
3
Arterial thoracic outlet syndrome in Klippel-Feil syndrome. (26909867)
2016
4
Extremely Large Amount of Fused Segments in a Rare Case of Klippel-Feil Syndrome. (27539778)
2016
5
Response to Dr. Al-Ani's letter: Klippel-Feil Syndrome associated with Pierre Robin Sequence and mandibular duplication. (27264987)
2016
6
Monsters and the case of L. Joseph: AndrAc Feil's thesis on the origin of the Klippel-Feil syndrome and a social transformation of medicine. (27364256)
2016
7
Klippel-Feil Syndrome With Spinal Dysraphism: Diastematomyelia on 18F-NaF Bone PET, CT, and MRI Imaging. (26859203)
2016
8
Crisis Management of Accidental Extubation in a Prone-Positioned Patient with Klippel-Feil Syndrome. (27301052)
2016
9
Poster 484 3D Printed Orthotic Designed for Klippel-Feil Syndrome Affected Hypoplastic Thumb: A Case Report. (27673225)
2016
10
A Case of Anomalous Origin and Course of Vertebral Artery in a Patient with Klippel Feil Syndrome. (27390547)
2016
11
Large ovarian cystadenofibroma causing large bowel obstruction in a patient with Klippel-Feil syndrome-A case report. (26780471)
2016
12
Association of Craniovertebral Junction Anomalies, Klippel-Feil Syndrome, Ruptured Dermoid Cyst and Mirror Movement in One Patient: A Unique Case and Literature Review. (26768882)
2016
13
Klippel-Feil syndrome associated with Pierre Robin sequence and mandibular duplication. (27236503)
2016
14
A case of fracture through fused cervical segments following trauma in a patient with Klippel-Feil syndrome. (27162441)
2016
15
Airway management in newborn with Klippel-Feil syndrome. (27591474)
2016
16
The intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome. (27444288)
2016
17
Treatment of Basilar Invagination With Klippel-Feil Syndrome: Atlantoaxial Joint Distraction and Fixation With Transoral Atlantoaxial Reduction Plate. (26990409)
2016
18
Two Cases of Klippel-Feil Syndrome with Cervical Myelopathy Successfully Treated by Simple Decompression without Fixation. (26512291)
2015
19
Case images: A case of Klippel-Feil syndrome with congenital cardiovascular anomalies. (26148087)
2015
20
The success of direct laryngoscopy in children with Klippel-Feil syndrome. (26381356)
2015
21
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. (26238661)
2015
22
Spinal Neurenteric Cyst in association with Klippel-Feil Syndrome Case report and literature review. (25790871)
2015
23
Coexistence of left internal carotid agenesis, klippel-feil syndrome and postaxial polydactyly. (25806098)
2015
24
Malignant teratoma in Klippel-Feil syndrome: a case report and review of the literature. (26438353)
2015
25
Prevalence of Klippel-Feil Syndrome in a Surgical Series of Patients with Cervical Spondylotic Myelopathy: Analysis of the Prospective, Multicenter AOSpine North America Study. (26225278)
2015
26
Klippel-Feil syndrome associated with congenital atlantooccipital dislocation and absent C1 posterior arch. (25797806)
2015
27
Pseudodystonic Posture Secondary to Klippel-Feil Syndrome and Diastematomyelia. (27352284)
2015
28
Type II Klippel-Feil syndrome with accompanying rare costa deformity: rib fusion. (25937113)
2015
29
A rare case of Klippel-Feil syndrome associated with atlantoaxial rotatory subluxation, atlanto-occipital fusion, and spina bifida. (26259886)
2015
30
Congenital cervical vertebrae clefts in Klippel-Feil syndrome. (25724430)
2015
31
Klippel-feil syndrome and unilateral diaphragmatic paralysis. (25834691)
2015
32
Airway management with McGrath Series 5 video laryngoscope in a woman with Klippel-Feil syndrome requiring urgent caesarean section. (26096264)
2015
33
Repeated anesthetic management for a patient with Klippel-Feil syndrome. (25191983)
2014
34
Cervical spinal cord dimensions and clinical outcomes in adults with klippel-feil syndrome: a comparison with matched controls. (25396101)
2014
35
A Rare Presentation of Os Odontoideum with Multiple Vertebral Fusion in Type III Klippel-Feil Syndrome (KFS) - A Case Report. (25386418)
2014
36
Use of Electroconvulsive Therapy in Schizophrenia With Klippel-Feil Syndrome. (25389809)
2014
37
Fiberoptic intubation through laryngeal mask airway for management of difficult airway in a child with Klippel-Feil syndrome. (25191201)
2014
38
Klippel-Feil syndrome and levo-looped transposition of the great arteries. (24865471)
2014
39
Postsurgical pneumoencephaly in a patient with Klippel-Feil syndrome. (24429049)
2014
40
The multiple associations of Klippel-Feil syndrome. (24950730)
2014
41
A skeletal disorder in a dog resembling the Klippel-Feil Syndrome witha88Sprengel's Deformity in humans. (25196886)
2014
42
Klippel-Feil syndrome and neuraxial anaesthesia. (25024485)
2014
43
Severe Sprengel deformity associated with Klippel-Feil syndrome and a complex vascular abnormality that determined the corrective surgery technique. (25171572)
2014
44
Surgical management of a hypoplastic distal aortic arch and coarctation of aorta in a patient with Klippel-Feil syndrome, ascending aortic aneurysm and bicuspid aortic valve. (24981107)
2014
45
A sporadic case of klippel-feil syndrome type 2. (24741547)
2014
46
Effects of cervical deep muscle strengthening in a neck pain: a patient with klippel-feil syndrome. (25540517)
2014
47
Klippel-feil syndrome in congenital scoliosis. (25202932)
2014
48
Fracture through fused cervical segments following trauma in a patient with Klippel-Feil syndrome. (24564244)
2014
49
Awake oral fibre-optic intubation in patients with Klippel-Feil syndrome. (24910354)
2014
50
Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect? (24339616)
2013

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

   (show less)
idSuper pathwaysTop Affiliating Genes

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
1cell developmentGO:004846810.2GDF3, GDF6
2growthGO:004000710.2GDF3, GDF6
3positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.2GDF3, GDF6
4regulation of MAPK cascadeGO:004340810.2GDF3, GDF6
5SMAD protein signal transductionGO:006039510.0GDF3, GDF6
6sclerotome developmentGO:006105610.0MEOX1, PAX1
7skeletal system developmentGO:00015019.9GDF3, PAX1
8bone morphogenesisGO:00603499.7PAX1, RIPPLY2
9somite rostral/caudal axis specificationGO:00325259.6GDF3, RIPPLY2
10somitogenesisGO:00017569.0PAX1, RIPPLY2

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:000512510.1GDF3, GDF6
2growth factor activityGO:000808310.0GDF3, GDF6
3transforming growth factor beta receptor bindingGO:00051609.5GDF3, GDF6

Sources for Klippel-Feil Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet