KFS
MCID: KLP003
MIFTS: 46

Klippel-Feil Syndrome (KFS) malady

Categories: Rare diseases, Ear diseases, Genetic diseases

Aliases & Classifications for Klippel-Feil Syndrome

Aliases & Descriptions for Klippel-Feil Syndrome:

Name: Klippel-Feil Syndrome 12 25 51 42 14
Congenital Dystrophia Brevicollis 12 25
Cervical Vertebral Fusion 50 25
Klippel Feil Syndrome 50 29
Klippel-Feil Deformity, Deafness and Facial Asymmetry 12
Congenital Synostosis of Cervical Vertebrae 12
Klippel-Feil Syndrome, Autosomal Dominant 69
Autosomal Dominant Klippel-Feil Syndrome 12
Cervical Vertebral Fusion Syndrome 25
Vertebral Cervical Fusion Syndrome 25
Klippel-Feil and Turner Syndrome 12
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 Ontology 12 DOID:10426
ICD10 33 Q76.1
ICD9CM 35 756.16
MeSH 42 D007714
NCIt 47 C98967
UMLS 69 C0022738

Summaries for Klippel-Feil Syndrome

NINDS : 51 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.  Most cases are sporadic (happen on their own) but mutations in the GDF6 (growth differentiation factor 6) or GDF3 (growth differentiation factor 3) genes can cause the disorder. These genes make proteins that are involved in bone development and segmentation of the vertebrae.

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 bone, spinal cord and heart, and related phenotypes are embryo and growth/size/body region

Disease Ontology : 12 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.

NIH Rare Diseases : 50 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

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

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 94)
id Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism 12.6
2 klippel-feil syndrome 1, autosomal dominant 12.5
3 klippel-feil syndrome 2 12.5
4 klippel-feil syndrome 3, autosomal dominant 12.5
5 mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones 12.3
6 isolated klippel-feil syndrome 12.2
7 klippel-feil syndrome 3 12.1
8 klippel-feil syndrome 4 12.1
9 frontonasal dysplasia klippel feil syndrome 12.1
10 klippel-feil syndrome 1 12.1
11 murcs association 11.4
12 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 11.2
13 segmentation syndrome 1 11.1
14 cervicitis 10.7
15 dermoid cyst 10.4
16 situs inversus 10.3
17 diastematomyelia 10.3
18 scoliosis 10.2
19 sprengel deformity 10.2
20 thoracic outlet syndrome 10.2
21 schizophrenia 10.1
22 syringomyelia 10.1
23 quadriplegia 10.1
24 pyruvate dehydrogenase phosphatase deficiency 10.1 GDF3 GDF6
25 respiratory failure 10.0
26 aneurysm 10.0
27 aortic coarctation 10.0
28 teratoma 10.0
29 neurenteric cyst 10.0
30 craniosynostosis 10.0
31 hydrocephalus 10.0
32 meningocele 10.0
33 meningitis 10.0
34 juvenile myelomonocytic leukemia, somatic ptpn11-related 10.0 GDF3 GDF6
35 cystinosis 10.0 GDF3 GDF6
36 multifocal pattern dystrophy simulating fundus flavimaculatus 10.0 GDF3 GDF6
37 retinitis pigmentosa 9 9.9 MEOX1 PAX1
38 cornelia de lange syndrome 5 9.9 GDF3 GDF6
39 dextrocardia 9.9
40 coarctation of aorta 9.9
41 hypoparathyroidism 9.9
42 central cord syndrome 9.9
43 rheumatoid arthritis 9.9
44 anencephaly 9.9
45 heart disease 9.9
46 arachnoid cysts 9.9
47 congenital hydrocephalus 9.9
48 asthma 9.9
49 pulmonary hypertension 9.9
50 polydactyly 9.9

Graphical network of the top 20 diseases related to Klippel-Feil Syndrome:



Diseases related to Klippel-Feil Syndrome

Symptoms & Phenotypes for Klippel-Feil Syndrome

MGI Mouse Phenotypes related to Klippel-Feil Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.56 GDF3 MEOX1 PAX1 RIPPLY2
2 growth/size/body region MP:0005378 9.55 PAX1 RIPPLY2 GDF3 GDF6 MEOX1
3 limbs/digits/tail MP:0005371 9.26 GDF6 MEOX1 PAX1 RIPPLY2
4 skeleton MP:0005390 8.92 GDF6 MEOX1 PAX1 RIPPLY2

Drugs & Therapeutics for Klippel-Feil Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
2 Study Using the CervicalStim Device Following Cervical Fusion Not yet recruiting NCT03177473

Search NIH Clinical Center for Klippel-Feil Syndrome

Cochrane evidence based reviews: klippel-feil syndrome

Genetic Tests for Klippel-Feil Syndrome

Genetic tests related to Klippel-Feil Syndrome:

id Genetic test Affiliating Genes
1 Klippel Feil Syndrome 29

Anatomical Context for Klippel-Feil Syndrome

MalaCards organs/tissues related to Klippel-Feil Syndrome:

39
Bone, Spinal Cord, Heart, Brain, Lung, Kidney, Tonsil

The Foundational Model of Anatomy Ontology organs/tissues related to Klippel-Feil Syndrome:

18
Cervical Vertebra

Publications for Klippel-Feil Syndrome

Articles related to Klippel-Feil Syndrome:

(show top 50) (show all 359)
id Title Authors Year
1
Endoscopic Resection of Skull Base Teratoma in Klippel-Feil Syndrome through Use of Combined Ultrasonic and Bipolar Diathermy Platforms. ( 28133560 )
2017
2
Deep Sedation Technique for Dental Rehabilitation of a Patient with Klippel-Feil Syndrome. ( 28387188 )
2017
3
Misdiagnosed syrinx in a patient with neuroschisis and Klippel-Feil syndrome: case report. ( 28357553 )
2017
4
Klippel-Feil syndrome: Interchange of Plan A and B for airway management in the same patient under different circumstances. ( 28250492 )
2017
5
Crisis Management of Accidental Extubation in a Prone-Positioned Patient with Klippel-Feil Syndrome: Erratum. ( 28199244 )
2017
6
Unicornuate Uterus in Klippel Feil Syndrome. ( 28410901 )
2017
7
Airway management in newborn with Klippel-Feil syndrome. ( 27591474 )
2016
8
Crisis Management of Accidental Extubation in a Prone-Positioned Patient with Klippel-Feil Syndrome. ( 27301052 )
2016
9
Klippel-Feil syndrome associated with Pierre Robin sequence and mandibular duplication. ( 27236503 )
2016
10
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
11
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
12
Klippel-Feil Syndrome With Spinal Dysraphism: Diastematomyelia on 18F-NaF Bone PET, CT, and MRI Imaging. ( 26859203 )
2016
13
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
14
Large ovarian cystadenofibroma causing large bowel obstruction in a patient with Klippel-Feil syndrome-A case report. ( 26780471 )
2016
15
A Case of Anomalous Origin and Course of Vertebral Artery in a Patient with Klippel Feil Syndrome. ( 27390547 )
2016
16
Extremely Large Amount of Fused Segments in a Rare Case of Klippel-Feil Syndrome. ( 27539778 )
2016
17
The intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome. ( 27444288 )
2016
18
Response to Dr. Al-Ani's letter: Klippel-Feil Syndrome associated with Pierre Robin Sequence and mandibular duplication. ( 27264987 )
2016
19
Arterial thoracic outlet syndrome in Klippel-Feil syndrome. ( 26909867 )
2016
20
Poster 484 3D Printed Orthotic Designed for Klippel-Feil Syndrome Affected Hypoplastic Thumb: A Case Report. ( 27673225 )
2016
21
Treatment of Basilar Invagination With Klippel-Feil Syndrome: Atlantoaxial Joint Distraction and Fixation With Transoral Atlantoaxial Reduction Plate. ( 26990409 )
2016
22
A case of fracture through fused cervical segments following trauma in a patient with Klippel-Feil syndrome. ( 27162441 )
2016
23
Klippel-Feil syndrome with butterfly vertebrae: rare case. ( 27032897 )
2016
24
The success of direct laryngoscopy in children with Klippel-Feil syndrome. ( 26381356 )
2015
25
Malignant teratoma in Klippel-Feil syndrome: a case report and review of the literature. ( 26438353 )
2015
26
A rare case of Klippel-Feil syndrome associated with atlantoaxial rotatory subluxation, atlanto-occipital fusion, and spina bifida. ( 26259886 )
2015
27
Klippel-Feil syndrome associated with congenital atlantooccipital dislocation and absent C1 posterior arch. ( 25797806 )
2015
28
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. ( 26238661 )
2015
29
Case images: A case of Klippel-Feil syndrome with congenital cardiovascular anomalies. ( 26148087 )
2015
30
Airway management with McGrath Series 5 video laryngoscope in a woman with Klippel-Feil syndrome requiring urgent caesarean section. ( 26096264 )
2015
31
Type II Klippel-Feil syndrome with accompanying rare costa deformity: rib fusion. ( 25937113 )
2015
32
Spinal Neurenteric Cyst in association with Klippel-Feil Syndrome Case report and literature review. ( 25790871 )
2015
33
Pseudodystonic Posture Secondary to Klippel-Feil Syndrome and Diastematomyelia. ( 27352284 )
2015
34
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
35
Klippel-feil syndrome and unilateral diaphragmatic paralysis. ( 25834691 )
2015
36
Congenital cervical vertebrae clefts in Klippel-Feil syndrome. ( 25724430 )
2015
37
Coexistence of left internal carotid agenesis, klippel-feil syndrome and postaxial polydactyly. ( 25806098 )
2015
38
Two Cases of Klippel-Feil Syndrome with Cervical Myelopathy Successfully Treated by Simple Decompression without Fixation. ( 26512291 )
2015
39
Klippel-feil syndrome in congenital scoliosis. ( 25202932 )
2014
40
A Rare Presentation of Os Odontoideum with Multiple Vertebral Fusion in Type III Klippel-Feil Syndrome (KFS) - A Case Report. ( 25386418 )
2014
41
Postsurgical pneumoencephaly in a patient with Klippel-Feil syndrome. ( 24429049 )
2014
42
Severe Sprengel deformity associated with Klippel-Feil syndrome and a complex vascular abnormality that determined the corrective surgery technique. ( 25171572 )
2014
43
Klippel-Feil syndrome and neuraxial anaesthesia. ( 25024485 )
2014
44
Fiberoptic intubation through laryngeal mask airway for management of difficult airway in a child with Klippel-Feil syndrome. ( 25191201 )
2014
45
Fracture through fused cervical segments following trauma in a patient with Klippel-Feil syndrome. ( 24564244 )
2014
46
Effects of cervical deep muscle strengthening in a neck pain: a patient with klippel-feil syndrome. ( 25540517 )
2014
47
Cervical spinal cord dimensions and clinical outcomes in adults with klippel-feil syndrome: a comparison with matched controls. ( 25396101 )
2014
48
Repeated anesthetic management for a patient with Klippel-Feil syndrome. ( 25191983 )
2014
49
Use of Electroconvulsive Therapy in Schizophrenia With Klippel-Feil Syndrome. ( 25389809 )
2014
50
A sporadic case of klippel-feil syndrome type 2. ( 24741547 )
2014

Variations for Klippel-Feil Syndrome

Expression for Klippel-Feil Syndrome

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

Pathways for Klippel-Feil Syndrome

GO Terms for Klippel-Feil Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.48 GDF3 PAX1
2 SMAD protein signal transduction GO:0060395 9.46 GDF3 GDF6
3 cell development GO:0048468 9.43 GDF3 GDF6
4 somitogenesis GO:0001756 9.4 PAX1 RIPPLY2
5 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.37 GDF3 GDF6
6 multicellular organism development GO:0007275 9.35 GDF3 GDF6 MEOX1 PAX1 RIPPLY2
7 regulation of MAPK cascade GO:0043408 9.32 GDF3 GDF6
8 bone morphogenesis GO:0060349 9.26 PAX1 RIPPLY2
9 somite rostral/caudal axis specification GO:0032525 9.16 GDF3 RIPPLY2
10 sclerotome development GO:0061056 8.62 MEOX1 PAX1

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

id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 8.96 GDF3 GDF6
2 transforming growth factor beta receptor binding GO:0005160 8.62 GDF3 GDF6

Sources for Klippel-Feil Syndrome

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9 Cosmic
10 dbSNP
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