MCID: KLP003
MIFTS: 46

Klippel-Feil Syndrome

Categories: Rare diseases, Genetic diseases, Ear diseases

Aliases & Classifications for Klippel-Feil Syndrome

MalaCards integrated aliases for Klippel-Feil Syndrome:

Name: Klippel-Feil Syndrome 12 24 50 36 41 14
Congenital Dystrophia Brevicollis 12 24
Cervical Vertebral Fusion 49 24
Klippel Feil Syndrome 49 28
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 24
Vertebral Cervical Fusion Syndrome 24
Klippel-Feil and Turner Syndrome 12
Dystrophia Brevicollis Congenita 24
Fusion of Cervical Vertebrae 24
Cervical Fusion Syndrome 24
Klippel-Feil Deformity 24
Klippel-Feil Sequence 24
Kfs 24

Classifications:



External Ids:

Disease Ontology 12 DOID:10426
ICD10 32 Q76.1
ICD9CM 34 756.16
MeSH 41 D007714
NCIt 46 C98967
KEGG 36 H00852

Summaries for Klippel-Feil Syndrome

NINDS : 50 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 scoliosis (curvature of the spine), spina bifida (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 isolated klippel-feil syndrome and klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism. An important gene associated with Klippel-Feil Syndrome is GDF6 (Growth Differentiation Factor 6), and among its related pathways/superpathways is TGF-beta signaling pathway. Affiliated tissues include cervical vertebra, bone and spinal cord, and related phenotypes are embryo and growth/size/body region

NIH Rare Diseases : 49 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 syndrome 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, 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: 8/4/2017

Genetics Home Reference : 24 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.

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.

Wikipedia : 72 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 2, Autosomal Recessive
Klippel-Feil Syndrome 3, Autosomal Dominant

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 isolated klippel-feil syndrome 33.0 GDF3 GDF6 MEOX1
2 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 12.7
3 klippel-feil syndrome 2, autosomal recessive 12.7
4 klippel-feil syndrome 3, autosomal dominant 12.6
5 klippel-feil syndrome 1, autosomal dominant 12.6
6 frontonasal dysplasia klippel feil syndrome 12.2
7 sprengel deformity 11.6
8 cardiospondylocarpofacial syndrome 11.6
9 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 11.5
10 murcs association 11.5
11 mental retardation, skeletal dysplasia, and abducens palsy 11.2
12 segmentation syndrome 1 11.2
13 cervicitis 10.8
14 dermoid cyst 10.5
15 branchiootic syndrome 1 10.4
16 diastematomyelia 10.3
17 situs inversus 10.3
18 cleft palate, isolated 10.3
19 scoliosis 10.3
20 thoracic outlet syndrome 10.2
21 polykaryocytosis inducer 10.2
22 schizophrenia 10.2
23 episodic pain syndrome, familial, 1 10.2
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
25 hydrocephalus 10.2
26 quadriplegia 10.2
27 syringomyelia 10.2
28 neural tube defects 10.1
29 renal hypodysplasia/aplasia 1 10.1
30 pierre robin syndrome 10.1
31 craniosynostosis 10.1
32 meningocele 10.1
33 respiratory failure 10.1
34 teratoma 10.1
35 meningitis 10.1
36 aortic coarctation 10.1
37 aneurysm 10.1
38 neurenteric cyst 10.1
39 microphthalmia, isolated, with coloboma 6 10.0 GDF3 GDF6
40 amyotrophic lateral sclerosis 1 9.9
41 atrial standstill 1 9.9
42 atrial septal defect 1 9.9
43 cervical rib 9.9
44 coarctation of aorta 9.9
45 fibrodysplasia ossificans progressiva 9.9
46 frontonasal dysplasia 1 9.9
47 hernia, hiatus 9.9
48 lipomatosis, multiple 9.9
49 macroglossia 9.9
50 palatopharyngeal incompetence 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.46 GDF3 MEOX1 PAX1 RIPPLY2
2 growth/size/body region MP:0005378 9.35 GDF3 GDF6 MEOX1 PAX1 RIPPLY2
3 limbs/digits/tail MP:0005371 8.92 GDF6 MEOX1 PAX1 RIPPLY2

Drugs & Therapeutics for Klippel-Feil Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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 Enrolling by invitation 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:

# Genetic test Affiliating Genes
1 Klippel Feil Syndrome 28

Anatomical Context for Klippel-Feil Syndrome

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

18
Cervical Vertebra

MalaCards organs/tissues related to Klippel-Feil Syndrome:

38
Bone, Spinal Cord, Heart, Brain, Lung, Kidney, Tonsil

Publications for Klippel-Feil Syndrome

Articles related to Klippel-Feil Syndrome:

(show top 50) (show all 366)
# Title Authors Year
1
Otolaryngologic Manifestations of Klippel-Feil Syndrome in Children. ( 29372238 )
2018
2
A Case of Intrathoracic Carotid Bifurcation Without Klippel-Feil Syndrome. ( 28967590 )
2018
3
Cervical Deformity and Potential Difficult Airway Management in Klippel-Feil Syndrome. ( 29194060 )
2017
4
The Crossed Flexor Plantar Response in Patients with Klippel-Feil Syndrome. ( 28626413 )
2017
5
Endoscopic Resection of Skull Base Teratoma in Klippel-Feil Syndrome through Use of Combined Ultrasonic and Bipolar Diathermy Platforms. ( 28133560 )
2017
6
Lateral medullary infarction with similar features of Brown Sequard syndrome caused by vertebrobasilar dysplasia and Klippel-Feil syndrome: A case report. ( 29137102 )
2017
7
Crisis Management of Accidental Extubation in a Prone-Positioned Patient with Klippel-Feil Syndrome: Erratum. ( 28199244 )
2017
8
Klippel-Feil syndrome: Interchange of Plan A and B for airway management in the same patient under different circumstances. ( 28250492 )
2017
9
Klippel-Feil Syndrome Associated with Sacral Agenesis, Low Lying Cord, Lipomyelomeningocele and Split Cord Malformation Presenting with Tethered Cord Syndrome: Pentads Neural Tube Defects Spread along Whole Spinal Axis. ( 28553382 )
2017
10
Endoscopic third ventriculostomy for hydrocephalus in a patient with Klippel-Feil syndrome: a case report. ( 28781856 )
2017
11
Deep Sedation Technique for Dental Rehabilitation of a Patient with Klippel-Feil Syndrome. ( 28387188 )
2017
12
Unicornuate Uterus in Klippel Feil Syndrome. ( 28410901 )
2017
13
Misdiagnosed syrinx in a patient with neuroschisis and Klippel-Feil syndrome: case report. ( 28357553 )
2017
14
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
15
Large ovarian cystadenofibroma causing large bowel obstruction in a patient with Klippel-Feil syndrome-A case report. ( 26780471 )
2016
16
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
17
Treatment of Basilar Invagination With Klippel-Feil Syndrome: Atlantoaxial Joint Distraction and Fixation With Transoral Atlantoaxial Reduction Plate. ( 26990409 )
2016
18
Arterial thoracic outlet syndrome in Klippel-Feil syndrome. ( 26909867 )
2016
19
Response to Dr. Al-Ani's letter: Klippel-Feil Syndrome associated with Pierre Robin Sequence and mandibular duplication. ( 27264987 )
2016
20
A Case of Anomalous Origin and Course of Vertebral Artery in a Patient with Klippel Feil Syndrome. ( 27390547 )
2016
21
Klippel-Feil syndrome associated with Pierre Robin sequence and mandibular duplication. ( 27236503 )
2016
22
Poster 484 3D Printed Orthotic Designed for Klippel-Feil Syndrome Affected Hypoplastic Thumb: A Case Report. ( 27673225 )
2016
23
Crisis Management of Accidental Extubation in a Prone-Positioned Patient with Klippel-Feil Syndrome. ( 27301052 )
2016
24
Airway management in newborn with Klippel-Feil syndrome. ( 27591474 )
2016
25
The intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome. ( 27444288 )
2016
26
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
27
A case of fracture through fused cervical segments following trauma in a patient with Klippel-Feil syndrome. ( 27162441 )
2016
28
Klippel-Feil syndrome with butterfly vertebrae: rare case. ( 27032897 )
2016
29
Extremely Large Amount of Fused Segments in a Rare Case of Klippel-Feil Syndrome. ( 27539778 )
2016
30
Klippel-Feil Syndrome With Spinal Dysraphism: Diastematomyelia on 18F-NaF Bone PET, CT, and MRI Imaging. ( 26859203 )
2016
31
Airway management with McGrath Series 5 video laryngoscope in a woman with Klippel-Feil syndrome requiring urgent caesarean section. ( 26096264 )
2015
32
Pseudodystonic Posture Secondary to Klippel-Feil Syndrome and Diastematomyelia. ( 27352284 )
2015
33
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
34
Coexistence of left internal carotid agenesis, klippel-feil syndrome and postaxial polydactyly. ( 25806098 )
2015
35
A rare case of Klippel-Feil syndrome associated with atlantoaxial rotatory subluxation, atlanto-occipital fusion, and spina bifida. ( 26259886 )
2015
36
Spinal Neurenteric Cyst in association with Klippel-Feil Syndrome Case report and literature review. ( 25790871 )
2015
37
Case images: A case of Klippel-Feil syndrome with congenital cardiovascular anomalies. ( 26148087 )
2015
38
Klippel-Feil syndrome associated with congenital atlantooccipital dislocation and absent C1 posterior arch. ( 25797806 )
2015
39
Congenital cervical vertebrae clefts in Klippel-Feil syndrome. ( 25724430 )
2015
40
Malignant teratoma in Klippel-Feil syndrome: a case report and review of the literature. ( 26438353 )
2015
41
Klippel-feil syndrome and unilateral diaphragmatic paralysis. ( 25834691 )
2015
42
Type II Klippel-Feil syndrome with accompanying rare costa deformity: rib fusion. ( 25937113 )
2015
43
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. ( 26238661 )
2015
44
Two Cases of Klippel-Feil Syndrome with Cervical Myelopathy Successfully Treated by Simple Decompression without Fixation. ( 26512291 )
2015
45
The success of direct laryngoscopy in children with Klippel-Feil syndrome. ( 26381356 )
2015
46
Awake oral fibre-optic intubation in patients with Klippel-Feil syndrome. ( 24910354 )
2014
47
Klippel-Feil syndrome and neuraxial anaesthesia. ( 25024485 )
2014
48
A skeletal disorder in a dog resembling the Klippel-Feil Syndrome witha88Sprengel's Deformity in humans. ( 25196886 )
2014
49
Cervical spinal cord dimensions and clinical outcomes in adults with klippel-feil syndrome: a comparison with matched controls. ( 25396101 )
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

Pathways related to Klippel-Feil Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

GO Terms for Klippel-Feil Syndrome

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

# 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 regulation of MAPK cascade GO:0043408 9.4 GDF3 GDF6
5 somitogenesis GO:0001756 9.37 PAX1 RIPPLY2
6 multicellular organism development GO:0007275 9.35 GDF3 GDF6 MEOX1 PAX1 RIPPLY2
7 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 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:

# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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