KFS2
MCID: KLP008
MIFTS: 29

Klippel-Feil Syndrome 2, Autosomal Recessive (KFS2)

Categories: Bone diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Klippel-Feil Syndrome 2, Autosomal Recessive

MalaCards integrated aliases for Klippel-Feil Syndrome 2, Autosomal Recessive:

Name: Klippel-Feil Syndrome 2, Autosomal Recessive 57 73 28 12 5
Klippel-Feil Syndrome 2 57 11 14
Cervical Vertebral Fusion Autosomal Recessive 73 5
Kfs2 57 73
Klippel-Feil Syndrome, Type 2, Autosomal Recessive 38
Cervical Vertebral Fusion, Autosomal Recessive 57
Klippel Feil Syndrome Recessive Type 71
Kfs, Autosomal Recessive 57
Kfs Autosomal Recessive 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014)


Classifications:



External Ids:

Disease Ontology 11 DOID:0080590
OMIM® 57 214300
OMIM Phenotypic Series 57 PS118100
MeSH 43 D007714
MedGen 40 C1859209
UMLS 71 C1859209

Summaries for Klippel-Feil Syndrome 2, Autosomal Recessive

OMIM®: 57 Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Clarke et al. (1998) proposed a classification system for KFS in which an autosomal recessive form is characterized by the most rostral fusion at C1 and the presence of severe associated anomalies, including short neck, cardiac defects, and craniofacial anomalies. For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100). (214300) (Updated 08-Dec-2022)

MalaCards based summary: Klippel-Feil Syndrome 2, Autosomal Recessive, also known as klippel-feil syndrome 2, is related to spondylocostal dysostosis 6, autosomal recessive and klippel-feil syndrome. An important gene associated with Klippel-Feil Syndrome 2, Autosomal Recessive is MEOX1 (Mesenchyme Homeobox 1). Affiliated tissues include bone, and related phenotypes are scoliosis and short neck

UniProtKB/Swiss-Prot: 73 A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement.

Disease Ontology: 11 A Klippel-Feil syndrome that has material basis in homozygous mutation in the MEOX1 gene on chromosome 17q21.

Related Diseases for Klippel-Feil Syndrome 2, Autosomal Recessive

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 2, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 6, autosomal recessive 9.5 RIPPLY2-CYB5R4 RIPPLY2
2 klippel-feil syndrome 9.3 RIPPLY2 MYO18B MEOX1

Symptoms & Phenotypes for Klippel-Feil Syndrome 2, Autosomal Recessive

Human phenotypes related to Klippel-Feil Syndrome 2, Autosomal Recessive:

30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 30 HP:0002650
2 short neck 30 HP:0000470
3 sensorineural hearing impairment 30 HP:0000407
4 cleft palate 30 HP:0000175
5 low posterior hairline 30 HP:0002162
6 sprengel anomaly 30 HP:0000912
7 conductive hearing impairment 30 HP:0000405
8 cleft upper lip 30 HP:0000204
9 ventricular septal defect 30 HP:0001629
10 fused cervical vertebrae 30 HP:0002949
11 cervical c2/c3 vertebral fusion 30 HP:0004602
12 limited neck range of motion 30 HP:0000466
13 abnormal pinna morphology 30 HP:0000377

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
fusion of cervical vertebrae

Skin Nails Hair Hair:
low posterior hairline

Head And Neck Ears:
hearing loss, sensorineural (in one family)
hearing loss, conductive (in one family)
abnormally shaped ears (in one family)

Cardiovascular Heart:
ventriculoseptal defect (in one family)

Head And Neck Neck:
short neck
limited neck range of motion

Chest Ribs Sternum Clavicles And Scapulae:
sprengel anomaly
elevated scapulae
omovertebral bone

Head And Neck Mouth:
cleft lip (in one family)
cleft palate (in one family)

Skeletal Skull:
anomalies of the foramen magnum

Clinical features from OMIM®:

214300 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Klippel-Feil Syndrome 2, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 MEOX1 MYO18B RIPPLY2

Drugs & Therapeutics for Klippel-Feil Syndrome 2, Autosomal Recessive

Search Clinical Trials, NIH Clinical Center for Klippel-Feil Syndrome 2, Autosomal Recessive

Genetic Tests for Klippel-Feil Syndrome 2, Autosomal Recessive

Genetic tests related to Klippel-Feil Syndrome 2, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Klippel-Feil Syndrome 2, Autosomal Recessive 28 MEOX1

Anatomical Context for Klippel-Feil Syndrome 2, Autosomal Recessive

Organs/tissues related to Klippel-Feil Syndrome 2, Autosomal Recessive:

MalaCards : Bone

Publications for Klippel-Feil Syndrome 2, Autosomal Recessive

Articles related to Klippel-Feil Syndrome 2, Autosomal Recessive:

(show all 16)
# Title Authors PMID Year
1
Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. 57 5
24073994 2013
2
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. 57 5
23290072 2013
3
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. 5
26238661 2015
4
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. 5
25343988 2015
5
Klippel-Feil syndrome: clinical features and current understanding of etiology. 57
15241163 2004
6
Report of a girl with Klippel-feil syndrome and Poland anomaly. 57
15658624 2004
7
Subclavian artery supply disruption sequence-Klippel-Feil and Mobius anomalies. 57
12061681 2002
8
Heterogeneity in Klippel-Feil syndrome: a new classification. 57
9880643 1998
9
Frontonasal dysplasia in the Klippel-Feil syndrome: a new associated malformation. 57
7151311 1982
10
Autosomal recessive Klippel-Feil syndrome. 57
7077623 1982
11
Absent ulna in the Klippel-Feil syndrome: an unusual associated malformation. 57
7363502 1980
12
Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents. 57
933127 1976
13
The squiggle tail (squig) mutation in mice is associated with a deletion in the mesenchyme homeobox 1 (Meox1) gene. 62
36138442 2022
14
Clinical and radiological findings in Arnold Chiari malformation. 62
21702272 2010
15
Identification of prevalent potyvirus on maize and johnsongrass in corn fields of Tehran province of Iran and a study on some of its properties. 62
17390895 2006
16
Sternal split approach to the cervicothoracic junction in children. 62
15928540 2005

Variations for Klippel-Feil Syndrome 2, Autosomal Recessive

ClinVar genetic disease variations for Klippel-Feil Syndrome 2, Autosomal Recessive:

5 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MEOX1 NM_004527.4(MEOX1):c.94del (p.Ala32fs) DEL Pathogenic
39507 rs1567750527 GRCh37: 17:41738809-41738809
GRCh38: 17:43661441-43661441
2 MEOX1 NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter) SNV Pathogenic
39508 rs772798486 GRCh37: 17:41719379-41719379
GRCh38: 17:43642011-43642011
3 MEOX1 NM_004527.4(MEOX1):c.250C>T (p.Gln84Ter) SNV Pathogenic
162132 rs713993044 GRCh37: 17:41738653-41738653
GRCh38: 17:43661285-43661285
4 MYO18B NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs) DUP Likely Pathogenic
634522 rs1569172839 GRCh37: 22:26299683-26299684
GRCh38: 22:25903716-25903717
5 RIPPLY2-CYB5R4, RIPPLY2 NM_001009994.3(RIPPLY2):c.299del (p.Leu100fs) DEL Likely Pathogenic
218314 rs864309489 GRCh37: 6:84567020-84567020
GRCh38: 6:83857301-83857301
6 GDF6 NM_001001557.4(GDF6):c.*320_*321insCTTT INSERT Uncertain Significance
364026 rs886063199 GRCh37: 8:97156470-97156471
GRCh38: 8:96144242-96144243
7 GDF6 NM_001001557.4(GDF6):c.*268_*275delinsCTTT INDEL Uncertain Significance
364032 rs886063205 GRCh37: 8:97156516-97156523
GRCh38: 8:96144288-96144295
8 GDF6 NM_001001557.4(GDF6):c.*322_*323insTT INSERT Uncertain Significance
364024 rs886063197 GRCh37: 8:97156468-97156469
GRCh38: 8:96144240-96144241
9 GDF6 NM_001001557.4(GDF6):c.*271_*272insCTC INSERT Uncertain Significance
364034 rs1554571161 GRCh37: 8:97156519-97156520
GRCh38: 8:96144291-96144292
10 GDF6 NM_001001557.4(GDF6):c.*273CT[20] MICROSAT Uncertain Significance
364027 rs71275339 GRCh37: 8:97156473-97156478
GRCh38: 8:96144245-96144250
11 GDF6 NM_001001557.4(GDF6):c.*272_*278del DEL Uncertain Significance
364030 rs886063203 GRCh37: 8:97156513-97156519
GRCh38: 8:96144285-96144291
12 GDF6 NM_001001557.4(GDF6):c.*271_*272insC INSERT Uncertain Significance
364033 rs1554571161 GRCh37: 8:97156519-97156520
GRCh38: 8:96144291-96144292
13 GDF6 NM_001001557.4(GDF6):c.*321_*322del DEL Uncertain Significance
364025 rs886063198 GRCh37: 8:97156469-97156470
GRCh38: 8:96144241-96144242
14 MYO18B NM_032608.7(MYO18B):c.736G>T (p.Gly246Trp) SNV Likely Benign
587504 rs1568989210 GRCh37: 22:26164619-26164619
GRCh38: 22:25768652-25768652
15 GDF6 NM_001001557.3(GDF6):c.*2243G>C SNV Likely Benign
369618 rs142786788 GRCh37: 8:97154548-97154548
GRCh38: 8:96142320-96142320
16 GDF6 NM_001001557.4(GDF6):c.*1429_*1430del DEL Likely Benign
364012 rs139734303 GRCh37: 8:97155361-97155362
GRCh38: 8:96143133-96143134
17 GDF6 NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) SNV Likely Benign
8371 rs121909352 GRCh37: 8:97157413-97157413
GRCh38: 8:96145185-96145185
18 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 2, Autosomal Recessive

Search GEO for disease gene expression data for Klippel-Feil Syndrome 2, Autosomal Recessive.

Pathways for Klippel-Feil Syndrome 2, Autosomal Recessive

GO Terms for Klippel-Feil Syndrome 2, Autosomal Recessive

Sources for Klippel-Feil Syndrome 2, Autosomal Recessive

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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