KFS2
MCID: KLP008
MIFTS: 28

Klippel-Feil Syndrome 2, Autosomal Recessive (KFS2)

Categories: Bone diseases, Genetic diseases, Rare diseases

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 72 29 13 6
Cervical Vertebral Fusion Autosomal Recessive 72 6
Klippel-Feil Syndrome 2 57 12
Kfs2 57 72
Klippel-Feil Syndrome, Type 2, Autosomal Recessive 39
Cervical Vertebral Fusion, Autosomal Recessive 57
Klippel Feil Syndrome Recessive Type 70
Kfs, Autosomal Recessive 57
Kfs Autosomal Recessive 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014)


HPO:

31
klippel-feil syndrome 2, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080590
OMIM® 57 214300
OMIM Phenotypic Series 57 PS118100
MeSH 44 D007714
MedGen 41 C1859209
UMLS 70 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 20-May-2021)

MalaCards based summary : Klippel-Feil Syndrome 2, Autosomal Recessive, also known as cervical vertebral fusion autosomal recessive, is related to isolated klippel-feil syndrome 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

Disease Ontology : 12 A Klippel-Feil syndrome that has material basis in homozygous mutation in the MEOX1 gene on chromosome 17q21.

UniProtKB/Swiss-Prot : 72 Klippel-Feil syndrome 2, autosomal recessive: 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.

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 isolated klippel-feil syndrome 9.4 RIPPLY2 MEOX1
2 klippel-feil syndrome 9.2 RIPPLY2 MYO18B MEOX1

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

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

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 short neck 31 HP:0000470
3 sensorineural hearing impairment 31 HP:0000407
4 cleft palate 31 HP:0000175
5 low posterior hairline 31 HP:0002162
6 sprengel anomaly 31 HP:0000912
7 conductive hearing impairment 31 HP:0000405
8 cleft upper lip 31 HP:0000204
9 ventricular septal defect 31 HP:0001629
10 fused cervical vertebrae 31 HP:0002949
11 abnormality of the pinna 31 HP:0000377
12 cervical c2/c3 vertebral fusion 31 HP:0004602
13 limited neck range of motion 31 HP:0000466

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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

46
# 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 29 MEOX1

Anatomical Context for Klippel-Feil Syndrome 2, Autosomal Recessive

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

40
Bone

Publications for Klippel-Feil Syndrome 2, Autosomal Recessive

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

(show all 13)
# Title Authors PMID Year
1
Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. 6 57
24073994 2013
2
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. 57 6
23290072 2013
3
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. 6
26238661 2015
4
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. 6
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
Identification of prevalent potyvirus on maize and johnsongrass in corn fields of Tehran province of Iran and a study on some of its properties. 61
17390895 2006

Variations for Klippel-Feil Syndrome 2, Autosomal Recessive

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MEOX1 NM_004527.4(MEOX1):c.94del (p.Ala32fs) Deletion 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 MEOX1 NM_004527.4(MEOX1):c.125del (p.Pro42fs) Deletion Pathogenic 1029858 GRCh37: 17:41738778-41738778
GRCh38: 17:43661410-43661410
5 MYO18B NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs) Duplication Likely pathogenic 634522 rs1569172839 GRCh37: 22:26299683-26299684
GRCh38: 22:25903716-25903717
6 RIPPLY2 NM_001009994.2(RIPPLY2):c.299del (p.Leu100fs) Deletion Likely pathogenic 218314 rs864309489 GRCh37: 6:84567020-84567020
GRCh38: 6:83857301-83857301
7 GDF6 NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) SNV Likely benign 8373 rs121909353 GRCh37: 8:97156888-97156888
GRCh38: 8:96144660-96144660
8 GDF6 NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) SNV Likely benign 8371 rs121909352 GRCh37: 8:97157413-97157413
GRCh38: 8:96145185-96145185

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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