Klippel-Feil Syndrome (KFS)

Categories: Bone diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Klippel-Feil Syndrome

MalaCards integrated aliases for Klippel-Feil Syndrome:

Name: Klippel-Feil Syndrome 11 42 52 75 28 5 43 14 31 33
Cervical Vertebral Fusion 19 42 75
Congenital Dystrophia Brevicollis 11 42
Cervical Fusion Syndrome 42 33
Klippel-Feil Deformity 42 33
Klippel-Feil Deformity, Deafness and Facial Asymmetry 11
Congenital Synostosis of Cervical Vertebrae 11
Klippel-Feil Syndrome, Autosomal Dominant 71
Autosomal Dominant Klippel-Feil Syndrome 11
Cervical Vertebral Fusion Syndrome 42
Vertebral Cervical Fusion Syndrome 42
Klippel-Feil and Turner Syndrome 11
Dystrophia Brevicollis Congenita 42
Isolated Klippel-Feil Syndrome 33
Fusion of Cervical Vertebrae 42
Klippel-Feil Malformation 33
Klippel Feil Syndrome 19
Klippel-Feil Sequence 42
Kfs 42


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Disease Ontology 11 DOID:10426
ICD9CM 34 756.16
MeSH 43 D007714
NCIt 49 C98967
SNOMED-CT 68 268349005
ICD10 31 Q76.1
ICD11 33 2139186992
UMLS 71 C0022738 C1861689

Summaries for Klippel-Feil Syndrome

MedlinePlus Genetics: 42 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.In people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur.People with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome.In some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.

MalaCards based summary: Klippel-Feil Syndrome, also known as cervical vertebral fusion, is related to klippel-feil syndrome 2, autosomal recessive and klippel-feil syndrome 1, autosomal dominant. An important gene associated with Klippel-Feil Syndrome is MYO18B (Myosin XVIIIB), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Mesodermal commitment pathway. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and brain, and related phenotypes are growth/size/body region and limbs/digits/tail

NINDS: 52 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.

GARD: 19 Klippel Feil syndrome (KFS) is a condition affecting the development of the bones in the spine. People with KFS are born with abnormal fusion of at least two spinal bones (vertebrae) in the neck. Common features may include a short neck, low hairline at the back of the head, and restricted movement of the upper spine. Some people with KFS have no symptoms. Others may have frequent headaches, back and neck pain, and other nerve issues. People with KFS are at risk for severe spinal injury. KFS can occur along with other types of birth defects, and sometimes KFS occurs as a feature of another disorder or syndrome. The cause of most cases of KFS is unknown, but sometimes it is caused by genetic alterations in one of several different genes. This condition is diagnosed based on a clinical examination, the symptoms, and imaging studies.

Disease Ontology: 11 A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.

Wikipedia: 75 Klippel-Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital... 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 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 275)
# Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 2, autosomal recessive 33.2 RIPPLY2 MYO18B MEOX1
2 klippel-feil syndrome 1, autosomal dominant 33.2 MYO18B GDF6
3 isolated klippel-feil syndrome 32.8 MEOX1 GDF6 GDF3
4 klippel-feil syndrome 1 32.8 GDF6 GDF5
5 meningocele 31.3 MESP2 HES7
6 syringomyelia 31.1 PAX1 GDF6 GDF3
7 dysostosis 30.8 TBX6 RIPPLY2 MESP2 LFNG HES7 GDF5
8 craniofacial microsomia 30.7 PAX1 GDF6
9 cleft palate, isolated 30.5 RPS26 PAX9 PAX1 GDF6
10 mirror movements 1 30.4 ROBO3 DNAL4
11 leber congenital amaurosis 17 30.4 GDF6 GDF5
12 microphthalmia, isolated 4 30.3 GDF6 GDF5
13 spina bifida occulta 30.3 PAX1 HES7 GDF6 GDF3
14 sacral defect with anterior meningocele 30.1 TBX6 PAX1 MESP2 LFNG HES7
15 coloboma of macula 29.9 KIR2DS4 GDF6 GDF3
16 spondylocostal dysostosis, autosomal recessive 29.8 RIPPLY2 MESP2 LFNG HES7 DLL3
17 scoliosis 29.8 TBX6 ROBO3 RIPPLY2 PAX1 MESP2 LFNG
18 spondylocostal dysostosis 1, autosomal recessive 29.6 TBX6 RIPPLY2 PAX1 MESP2 LFNG HES7
19 klippel-feil syndrome 3, autosomal dominant 11.9
20 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 11.9
21 klippel-feil syndrome 4 11.7
22 klippel-feil syndrome 3 11.7
23 frontonasal dysplasia klippel feil syndrome 11.7
24 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 11.6
25 renal, genital, and middle ear anomalies 11.4
26 mental retardation, skeletal dysplasia, and abducens palsy 11.4
27 cardiospondylocarpofacial syndrome 11.3
28 sprengel deformity 10.8
29 spinal cord disease 10.8
30 neural tube defects 10.7
31 benign teratoma 10.6
32 diastematomyelia 10.6
33 synostosis 10.6
34 dermoid cyst of ovary 10.6
35 situs inversus 10.5
36 dextrocardia with situs inversus 10.5
37 idiopathic syringomyelia 10.5
38 cervical rib 10.5
39 coarctation of aorta 10.5
40 renal hypodysplasia/aplasia 1 10.5
41 tethered spinal cord syndrome 10.5
42 chiari malformation 10.5
43 hemifacial hyperplasia 10.4
44 hydrocephalus 10.4
45 radiculopathy 10.4
46 torticollis 10.4
47 multiple pterygium syndrome, escobar variant 10.4
48 myelomeningocele 10.4
49 quadriplegia 10.4
50 aortic valve disease 2 10.3

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:

# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.17 BAZ1B DLL3 GDF3 GDF5 GDF6 HES7
2 limbs/digits/tail MP:0005371 10.14 DLL3 GDF5 GDF6 HES7 LFNG MEOX1
3 embryo MP:0005380 10.13 BAZ1B CDX1 DLL3 GDF3 GDF5 HES7
4 muscle MP:0005369 10.09 BAZ1B DLL3 LFNG MEOX1 MESP2 MYO18B
5 hearing/vestibular/ear MP:0005377 9.85 DLL3 GDF6 LFNG MYO18B PAX9 ROBO3
6 skeleton MP:0005390 9.8 BAZ1B CDX1 DLL3 GDF5 GDF6 HES7
7 craniofacial MP:0005382 9.7 BAZ1B CDX1 DLL3 GDF6 MEOX1 PAX1
8 mortality/aging MP:0010768 9.55 BAZ1B DLL3 DNAL4 GDF3 GDF5 GDF6

Drugs & Therapeutics for Klippel-Feil Syndrome

Drugs for Klippel-Feil Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

# Name Status Phase Clinical Trials Cas Number PubChem Id
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
Tannic acid Approved 1401-55-4 16129878 16129778
3 Anesthetics

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 A Multi-Center, Open-Label, Prospective Study of CervicalStim Device™ as Adjunctive Care Following Cervical Fusion Completed NCT03177473
2 Prospective Follow-up Study of CeSPACE XP - Titanium Coated PEEK Cages - for the Treatment of Degenerative Cervical Disc Disease Completed NCT03565224
3 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
4 Airway Management of Pediatric Patients With Klippel-Feil Syndrome Active, not recruiting NCT03741790

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

Organs/tissues related to Klippel-Feil Syndrome:

MalaCards : Spinal Cord, Bone, Brain, Heart, Lung, Eye, Uterus

Publications for Klippel-Feil Syndrome

Articles related to Klippel-Feil Syndrome:

(show top 50) (show all 881)
# Title Authors PMID Year
Wildervanck syndrome: clinical case report. 62
36413195 2022
Application of C2 subfacetal screws for the management of atlantoaxial dislocation in patients with Klippel-Feil syndrome characterized by a narrow C2 pedicle and high-riding vertebral artery. 62
36384627 2022
Klippel Feil Syndrome presenting with tricuspid regurgitation and cardiopulmonary distress secondary to dysplastic thoracic cage and spine: A case report. 62
36268408 2022
Congenital Cervical Spinal Deformities. 62
36302448 2022
The squiggle tail (squig) mutation in mice is associated with a deletion in the mesenchyme homeobox 1 (Meox1) gene. 62
36138442 2022
Surgical Management Of Irreducible Atlanto-Axial Dislocation With OS Odontoideum And Klippel-Feil Syndrome. 62
36377179 2022
[Research on effectiveness of occipito-odontoid angle in predicting dysphagia after occipitocervical fusion in patients with C 2, 3 Klippel-Feil syndrome]. 62
35712932 2022
A case of ischemic stroke accompanied by multiple arterial dissections associated with Klippel-Feil syndrome. 62
35228024 2022
Wiedemann-Steiner Syndrome 62
35617449 2022
Outcomes after cervical vertebral interbody fusion using an interbody fusion device and polyaxial pedicle screw and rod construct in 10 horses (2015-2019). 62
33844334 2022
Klippel-Feil Syndrome: Clinical Presentation and Management. 62
35171878 2022
The predictive ability of occipital to C3 angle for dysphagia after occipitocervical fusion in patients with combined C2-3 Klippel-Feil syndrome. 62
35130887 2022
Prevalence and Risk Factors of Surgical Treatment for Klippel-Feil Syndrome. 62
35747438 2022
Cervical myelopathy in a patient with Klippel-Feil syndrome treated with a patient-specific custom cervical spine locking plate. 62
35031606 2022
A case of nonrheumatoid retro-odontoid pseudotumor in Klippel-Feil syndrome with C1 occipitalization. 62
36324985 2022
Machine-vision image guided C4-C5 unilateral cervical pedicle screw insertion: case report and review of literature. 62
35128317 2022
Vertebral Artery Dissection in a Case of Klippel-Feil Syndrome. 62
34233373 2021
Modified Woodward's procedure confers functional improvement in Sprengel's deformity. 62
33136795 2021
Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management. 62
34288888 2021
Prenatal diagnosis of Sprengel's deformity in a patient with Klippel-Feil Syndrome. 62
33756309 2021
Congenital Cervical Hemivertebrae and Block Vertebrae in a 43-Year-Old Male. 62
34804670 2021
Cervical disc arthroplasty for Klippel-Feil syndrome. 62
34543827 2021
Atlantoaxial Rotatory Fixation after Microtia Reconstruction Surgery. 62
34476155 2021
Perioperative Management of a Child with Klippel-Feil Syndrome and Severe Uncorrected Aortic Stenosis Undergoing Cervical Spine Stabilization. 62
36160619 2021
The VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome. 62
34014041 2021
Klippel-Feil syndrome cases from Slovakia. 62
33971397 2021
The Inescapable Conundrum of Klippel-Feil Syndrome Airway: Case Reports. 62
34042569 2021
Rare association of Klippel-Feil syndrome with situs inversus totalis and review of the genetic background. 62
33980560 2021
Imaging characteristics associated with surgery in Chiari malformation type I. 62
33892468 2021
A rare case of difficult airway management in a Klippel-Feil syndrome pediatric patient with osseous torticollis undergone orthopedic surgery : Difficult airway in pediatric patient with torticollis. 62
33874892 2021
Klippel Feil syndrome with crossed fused renal ectopia with pelviureteric junction obstruction: A rare association. 62
33867644 2021
Rare cause of paraparesis in a young man: cervico-dorsal neurenteric cysts associated with Klippel-Feil syndrome. 62
33737271 2021
Images in Spine: A Rare Abnormal Bony Fusion. 62
33833930 2021
[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome]. 62
33663658 2021
Endoscopic Endonasal Transclival Odontoidectomy for Basilar Invagination: Operative Video and Technical Nuances. 62
33717805 2021
Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism. 62
33179433 2021
Comparative proteomics analysis for identifying the lipid metabolism related pathways in patients with Klippel-Feil syndrome. 62
33708882 2021
Sprengel Deformity with Omovertebral Bone Encroaching the Spinal Canal Causing Progressive Cervical Myelopathy: A Technical Case Report. 62
33220477 2021
Report of two cases with omovertebral bone and Klippel-Feil syndrome with craniovertebral junction instability. 62
33850390 2021
Cervical myelopathy secondary to omovertebral bone in the pediatric patient with Sprengel deformity. 62
33530049 2021
Surgical treatment of a complex craniocervical malformation combined with posterior cranial fossa teratoma: a case report and literature review. 62
33461616 2021
Cervical myelopathy in a child with Sprengel shoulder and Klippel-Feil syndrome. 62
32749619 2021
Letter to the Editor Regarding "Congenital Fusion of Dens to T3 Vertebra in Klippel-Feil Syndrome". 62
33227858 2020
In Reply to the Letter to the Editor Regarding "Congenital Fusion of Dens to T3 Vertebra in Klippel-Feil Syndrome". 62
33227859 2020
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. 62
33276377 2020
GDF6-CD99 Signaling Regulates Src and Ewing Sarcoma Growth. 62
33147457 2020
Congenital Fusion of Dens to T3 Vertebra in Klippel-Feil Syndrome. 62
32652274 2020
Central sleep apnea and Chiari 1 malformation in a pediatric patient with Klippel-Feil syndrome. 62
32620190 2020
Occipital Plate Fixation in the Pediatric Population. 62
32301850 2020
Omovertebral bone causing traumatic compression of the cervical spinal cord and acute neurological deficits in a patient with Sprengel's deformity and Klippel-Feil syndrome: case report. 62
32977313 2020

Variations for Klippel-Feil Syndrome

ClinVar genetic disease variations for Klippel-Feil Syndrome:

5 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYO18B NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs) DUP Likely Pathogenic
634522 rs1569172839 GRCh37: 22:26299683-26299684
GRCh38: 22:25903716-25903717
2 GDF6 NM_001001557.4(GDF6):c.*268_*275delinsCTTT INDEL Uncertain Significance
364032 rs886063205 GRCh37: 8:97156516-97156523
GRCh38: 8:96144288-96144295
3 GDF6 NM_001001557.4(GDF6):c.*322_*323insTT INSERT Uncertain Significance
364024 rs886063197 GRCh37: 8:97156468-97156469
GRCh38: 8:96144240-96144241
4 GDF6 NM_001001557.4(GDF6):c.*271_*272insCTC INSERT Uncertain Significance
364034 rs1554571161 GRCh37: 8:97156519-97156520
GRCh38: 8:96144291-96144292
5 GDF6 NM_001001557.4(GDF6):c.*320_*321insCTTT INSERT Uncertain Significance
364026 rs886063199 GRCh37: 8:97156470-97156471
GRCh38: 8:96144242-96144243
6 GDF6 NM_001001557.4(GDF6):c.*273CT[20] MICROSAT Uncertain Significance
364027 rs71275339 GRCh37: 8:97156473-97156478
GRCh38: 8:96144245-96144250
7 GDF6 NM_001001557.4(GDF6):c.*272_*278del DEL Uncertain Significance
364030 rs886063203 GRCh37: 8:97156513-97156519
GRCh38: 8:96144285-96144291
8 GDF6 NM_001001557.4(GDF6):c.*271_*272insC INSERT Uncertain Significance
364033 rs1554571161 GRCh37: 8:97156519-97156520
GRCh38: 8:96144291-96144292
9 GDF6 NM_001001557.4(GDF6):c.*321_*322del DEL Uncertain Significance
364025 rs886063198 GRCh37: 8:97156469-97156470
GRCh38: 8:96144241-96144242
10 MYO18B NM_032608.7(MYO18B):c.736G>T (p.Gly246Trp) SNV Likely Benign
587504 rs1568989210 GRCh37: 22:26164619-26164619
GRCh38: 22:25768652-25768652
11 GDF6 NM_001001557.4(GDF6):c.*1429_*1430del DEL Likely Benign
364012 rs139734303 GRCh37: 8:97155361-97155362
GRCh38: 8:96143133-96143134
12 GDF6 NM_001001557.3(GDF6):c.*2243G>C SNV Likely Benign
369618 rs142786788 GRCh37: 8:97154548-97154548
GRCh38: 8:96142320-96142320
13 GDF6 NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) SNV Likely Benign
8371 rs121909352 GRCh37: 8:97157413-97157413
GRCh38: 8:96145185-96145185
14 GDF6 NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) SNV Likely Benign
8373 rs121909353 GRCh37: 8:97156888-97156888
GRCh38: 8:96144660-96144660

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

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

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.5 TBX6 PAX9 PAX1 MESP2 MEOX1 HES7

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 10.08 PAX1 HES7 GDF3 DLL3
2 BMP signaling pathway GO:0030509 10.01 GDF6 GDF5 GDF3
3 Notch signaling pathway GO:0007219 10.01 DLL3 HES7 MESP2 RIPPLY2
4 SMAD protein signal transduction GO:0060395 10 GDF6 GDF5 GDF3
5 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.99 GDF6 GDF5 GDF3
6 mesoderm development GO:0007498 9.8 TBX6 HES7 GDF3
7 regulation of somitogenesis GO:0014807 9.76 LFNG CDX1
8 somite specification GO:0001757 9.73 RIPPLY1 MEOX1
9 pattern specification process GO:0007389 9.67 CDX1 LFNG PAX1
10 compartment pattern specification GO:0007386 9.67 LFNG DLL3
11 somitogenesis GO:0001756 9.61 RIPPLY2 PAX1 LFNG HES7 DLL3
12 bone morphogenesis GO:0060349 9.55 CDX1 PAX1 RIPPLY2
13 sclerotome development GO:0061056 9.43 PAX1 MEOX1
14 somite rostral/caudal axis specification GO:0032525 9.32 TBX6 RIPPLY2 RIPPLY1 MESP2 GDF3

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.56 TBX6 PAX9 PAX1 MESP2 MEOX1 CDX1
2 sequence-specific double-stranded DNA binding GO:1990837 9.47 TBX6 PAX9 PAX1 MESP2 MEOX1 HES7

Sources for Klippel-Feil Syndrome

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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