MCID: KLP003
MIFTS: 54

Klippel-Feil Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Ear diseases categories

Aliases & Classifications for Klippel-Feil Syndrome

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Klippel-Feil Syndrome, Aliases & Descriptions:

Name: Klippel-Feil Syndrome 9 21 42 11
Klippel Feil Syndrome 41 20 22
Klippel-Feil Sequence 41 21 47
Congenital Cervical Vertebral Fusion 41 47
Congenital Fused Cervical Segments 41 47
Isolated Klippel-Feil Syndrome 41 47
Klippel-Feil Malformation 41 47
Klippel-Feil Deformity, Deafness and Facial Asymmetry 9
Cervical Vertebral Fusion Autosomal Recessive 41
Cervical Vertebral Fusion Autosomal Dominant 41
Congenital Synostosis of Cervical Vertebrae 9
 
Klippel Feil Syndrome Autosomal Recessive 41
Klippel-Feil Syndrome, Autosomal Dominant 60
Klippel Feil Syndrome Autosomal Dominant 41
Autosomal Dominant Klippel-Feil Syndrome 9
Vertebral Cervical Fusion Syndrome 21
Congenital Dystrophia Brevicollis 9
Klippel-Feil and Turner Syndrome 9
Cervical Vertebral Fusion 41
Cervical Fusion Syndrome 21
Kfs 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
klippel-feil sequence:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


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Disease Ontology9 DOID:10426
ICD9CM27 756.16
MeSH33 D007714
Orphanet47 2345
ICD10 via Orphanet26 Q76.1
ICD1025 Q76.1

Summaries for Klippel-Feil Syndrome

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NINDS:42 Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of any 2 of the 7 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. Associated abnormalities may include (curvature of the spine), (a birth defect of the spine), anomalies of the kidneys and the ribs, cleft palate, respiratory problems, and heart malformations. The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers.

MalaCards based summary: Klippel-Feil Syndrome, also known as klippel feil syndrome, is related to diamond-blackfan anemia and cervicitis, and has symptoms including facial asymmetry, webbed neck and short neck. An important gene associated with Klippel-Feil Syndrome is GDF6 (growth differentiation factor 6), and among its related pathways is TGF-beta Signaling Pathway. Affiliated tissues include cervical vertebra, bone and kidney, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Disease Ontology:9 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:21 Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. 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:41 Klippel feil syndrome is a musculoskeletal disorder that is present from birth. it is characterized by the fusion of at least two vertebrae of the neck. most cases are sporadic but in some cases, it can be inherited in an autosomal dominant or autosomal recessive fashion. common symptoms of klippel feil syndrome include short neck, low hairline at the back of the head, and restricted mobility of the upper spine. last updated: 7/26/2013

Wikipedia:63 Klippel?Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and Andr more...

Related Diseases for Klippel-Feil Syndrome

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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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Symptoms:

 47 (show all 25)
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • short neck
  • webbed neck/pterygium colli
  • anomalies of spine, vertebrae and pelvis
  • vertebral segmentation anomaly/hemivertebrae
  • low hair line (back)
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • hearing loss/hypoacusia/deafness
  • congenital torticolli
  • narrow/sloping shoulders
  • anomalies of the ribs
  • scoliosis
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • sacro-coccyx/sacrum anomaly
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • anus ectopia/anteposition/malposition
  • congenital cardiac anomaly/malformation/cardiopathy
  • ventricular septal defect/interventricular communication
  • agenesis/hypoplasia/aplasia of kidneys
  • spina bifida
  • cranial nerve anomalies
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Klippel-Feil Syndrome:

(show all 21)
id Description Frequency HPO Source Accession
1 facial asymmetry hallmark (90%) HP:0000324
2 webbed neck hallmark (90%) HP:0000465
3 short neck hallmark (90%) HP:0000470
4 low posterior hairline hallmark (90%) HP:0002162
5 vertebral segmentation defect hallmark (90%) HP:0003422
6 hearing impairment typical (50%) HP:0000365
7 abnormality of the ribs typical (50%) HP:0000772
8 sprengel anomaly typical (50%) HP:0000912
9 scoliosis typical (50%) HP:0002650
10 abnormality of the shoulder typical (50%) HP:0003043
11 congenital muscular torticollis typical (50%) HP:0005988
12 cleft palate occasional (7.5%) HP:0000175
13 abnormality of the cranial nerves occasional (7.5%) HP:0001291
14 ventricular septal defect occasional (7.5%) HP:0001629
15 spina bifida occasional (7.5%) HP:0002414
16 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
17 ectopic anus occasional (7.5%) HP:0004397
18 abnormality of the sacrum occasional (7.5%) HP:0005107
19 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
20 cognitive impairment occasional (7.5%) HP:0100543
21 urogenital fistula occasional (7.5%) HP:0100589

Drugs & Therapeutics for Klippel-Feil Syndrome

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Drug clinical trials:

Search ClinicalTrials for Klippel-Feil Syndrome

Search NIH Clinical Center for 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 Syndrome20 GDF6
2 Klippel Feil Syndrome22

Anatomical Context for Klippel-Feil Syndrome

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MalaCards organs/tissues related to Klippel-Feil Syndrome:

31
Bone, Kidney, Heart, Brain, Spinal cord, Lung, Colon, Tonsil

FMA organs/tissues related to Klippel-Feil Syndrome:

14
Cervical vertebra

Animal Models for Klippel-Feil Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Klippel-Feil Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1TBX6, MEOX1, PAX1, GDF6
2MP:00053829.0GDF1, GDF6, PAX1, MEOX1
3MP:00053908.8TBX6, MEOX1, PAX1, GDF6, GDF1
4MP:00053808.7GDF1, GDF3, PAX1, MEOX1, TBX6
5MP:00036318.6TBX6, MEOX1, PAX1, GDF6, GDF1
6MP:00053788.3GDF1, GDF3, GDF6, PAX1, MEOX1, TBX6
7MP:00107688.0GDF1, GDF3, GDF6, PAX1, MEOX1, TBX6

Publications for Klippel-Feil Syndrome

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Articles related to Klippel-Feil Syndrome:

(show top 50)    (show all 319)
idTitleAuthorsYear
1
Repeated anesthetic management for a patient with Klippel-Feil syndrome. (25191983)
2014
2
Postsurgical pneumoencephaly in a patient with Klippel-Feil syndrome. (24429049)
2014
3
The multiple associations of Klippel-Feil syndrome. (24950730)
2014
4
Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect? (24339616)
2013
5
Surgical treatment of Klippel-Feil syndrome with basilar invagination. (22926486)
2013
6
Duplication of the mandible in Klippel-Feil syndrome. (23357707)
2013
7
Klippel-Feil syndrome associated with a craniocervico-thoracic dermoid cyst. (23646276)
2013
8
Cervical canal stenosis caused by progressive fusion and enlargement of cervical vertebrae with features of Proteus syndrome and Klippel-Feil syndrome. (23760594)
2013
9
Pentax-AWS video laryngoscope for tracheal intubation in a patient with Klippel-Feil syndrome. (24478859)
2013
10
Duplicated odontoid process and atlas clefts associated to Klippel-Feil syndrome. (22513073)
2012
11
Bilateral scaphotrapezium coalition with bilateral scaphoid nonunion in a patient with Klippel-Feil syndrome: a case report. (22379450)
2011
12
Omovertebral bone associated with Sprengel deformity and Klippel-Feil syndrome leading to cervical myelopathy. (20672958)
2010
13
Klippel-Feil syndrome in association with posterior fossa dermoid tumour. (19229468)
2009
14
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. (18425797)
2008
15
Klippel-Feil syndrome with situs inversus--a rare association. (18474164)
2008
16
Klippel-Feil syndrome and Sprengel deformity combined with an intraspinal course of the left subclavian artery and a bovine aortic arch variant. (18024572)
2008
17
Cervical myelopathy in Klippel-Feil syndrome. (18975531)
2008
18
Klippel-Feil syndrome: a case report and current understanding of molecular genetic background. (17822192)
2007
19
Thoracic outlet syndrome portending Klippel-Feil syndrome. (16650793)
2006
20
Klippel-Feil syndrome accompanied by an aneurysm of the non-coronary sinus of Valsalva. (17106170)
2006
21
Central cord syndrome in patients with Klippel-Feil syndrome resulting from winter sports: report of 3 cases. (16685084)
2006
22
Diagnostic importance of 3D CT images in Klippel-Feil Syndrome with multiple skeletal anomalies: a case report. (16374086)
2005
23
Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma. (15197508)
2004
24
Vertebral arterial dissection associated with Klippel-Feil syndrome in a child. (11935247)
2002
25
Investigations into the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel-Feil syndrome. (11950676)
2002
26
Klippel-Feil syndrome in the prehispanic population of El Hierro (Canary Islands). (11203718)
2001
27
Craniofacial characteristics of Klippel-Feil syndrome in an eight year old female. (11314151)
2000
28
Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum. (11045589)
2000
29
Iniencephaly in a live born and not Klippel Feil syndrome. (10745378)
1999
30
Association of posterior fossa dermoid cyst and Klippel-Feil syndrome. (9432185)
1998
31
The cervical spine in the Klippel-Feil syndrome. A report of 57 cases. (8557413)
1995
32
Klippel-Feil syndrome: patterns of bony fusion and wasp-waist sign. (8272889)
1993
33
Anomalous rib presenting as cervical myelopathy: a previously unreported variant of Klippel-Feil syndrome. Case report. (1869950)
1991
34
Neuroschisis of the cervical spinal cord in a patient with Klippel-Feil syndrome. (3587559)
1987
35
Management of Klippel-Feil syndrome: correction. (6502249)
1984
36
Combination of the Mayer-Rokitansky-KA1ster and Klippel-Feil syndrome--a case report and literature review. (7117655)
1982
37
Gallbladder agenesis in a patient with Klippel-Feil syndrome. (6895462)
1981
38
Absent ulna in the Klippel-Feil syndrome: an unusual associated malformation. (7363502)
1980
39
Klippel-Feil syndrome and deafness. A study with polytomography. (5026201)
1972
40
Pulmonary disability in the Klippel-Feil syndrome. A study of two siblings. (5361187)
1969
41
Klippel-Feil syndrome and bicuspid aortic valve: report of a case. (4224889)
1966
42
COR TRILOCULARE BIATRIATUM ASSOCIATED WITH KLIPPEL-FEIL SYNDROME. (14340814)
1965
43
KLIPPEL FEIL SYNDROME. A BRIEF REVIEW WITH REPORT OF 7 CASES. (14291035)
1965
44
Klippel-Feil syndrome. Syringomyelia, diastematomyelia, and myelomeningocele--one disease? (13896922)
1961
45
Brevicollis: Klippel-Feil syndrome; case report. (13491099)
1957
46
Case report: Klippel-Feil syndrome. (13186930)
1954
47
A case of Klippel-Feil syndrome in a Chinese naval rating. (14909194)
1952
48
Discussion of the Klippel-Feil syndrome; report of four cases. (18106444)
1949
49
An analysis of the Klippel-Feil syndrome. (21019989)
1946
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MEOX1MEOX1, 1-BP DEL, 94GdeletionPathogenic
2MEOX1MEOX1, ARG222TERsingle nucleotide variantPathogenic
3GDF6NM_001001557.2(GDF6): c.866T> C (p.Leu289Pro)single nucleotide variantPathogenicrs63751220GRCh37Chr 8, 97157293: 97157293
4GDF6NM_001001557.2(GDF6): c.1271A> G (p.Lys424Arg)single nucleotide variantPathogenicrs121909353GRCh37Chr 8, 97156888: 97156888
5GDF6NM_001001557.2(GDF6): c.125G> T (p.Gly42Val)single nucleotide variantPathogenicrs121909354GRCh37Chr 8, 97172796: 97172796

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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4GDF6, GDF3, GDF1

Compounds 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:

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:00015019.8PAX1, GDF3
2mesoderm developmentGO:00074989.4TBX6, GDF3
3growthGO:00400079.3GDF6, GDF3, GDF1

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051259.4GDF6, GDF3, GDF1
2growth factor activityGO:00080839.1GDF6, GDF3, GDF1

Products for genes affiliated with Klippel-Feil Syndrome

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Sources for Klippel-Feil Syndrome

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3CDC
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25ICD10
26ICD10 via Orphanet
27ICD9CM
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29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
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46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
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61UMLS via Orphanet