KFS4
MCID: KLP016
MIFTS: 27

Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism (KFS4)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline...

MalaCards integrated aliases for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism:

Name: Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 57 72 29 6
Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism 57 29
Kfs4 57 72
Klippel-Feil Anomaly-Myopathy-Facial Dysmorphism Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
klippel-feil anomaly-myopathy-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable features
three unrelated patients have been reported (last curated october 2017)


HPO:

31
klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline...

UniProtKB/Swiss-Prot : 72 Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism: A form of Klippel-Feil syndrome, 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. KFS4 features additionally include myopathy, mild short stature, microcephaly, and distinctive facies.

MalaCards based summary : Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism, also known as klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, is related to klippel-feil syndrome 4 and klippel-feil syndrome. An important gene associated with Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism is MYO18B (Myosin XVIIIB). Related phenotypes are ptosis and high palate

OMIM® : 57 Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015). For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100). (616549) (Updated 05-Apr-2021)

Related Diseases for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline...

Diseases related to Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 4 9.6 MYO18B-AS1 MYO18B
2 klippel-feil syndrome 9.5 MYO18B-AS1 MYO18B

Symptoms & Phenotypes for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline...

Human phenotypes related to Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 very rare (1%) HP:0000508
2 high palate 31 very rare (1%) HP:0000218
3 microcephaly 31 very rare (1%) HP:0000252
4 short stature 31 very rare (1%) HP:0004322
5 everted lower lip vermilion 31 very rare (1%) HP:0000232
6 micrognathia 31 very rare (1%) HP:0000347
7 low-set ears 31 very rare (1%) HP:0000369
8 webbed neck 31 very rare (1%) HP:0000465
9 low posterior hairline 31 very rare (1%) HP:0002162
10 motor delay 31 very rare (1%) HP:0001270
11 thin upper lip vermilion 31 very rare (1%) HP:0000219
12 long philtrum 31 very rare (1%) HP:0000343
13 bulbous nose 31 very rare (1%) HP:0000414
14 underdeveloped nasal alae 31 very rare (1%) HP:0000430
15 generalized hypotonia 31 very rare (1%) HP:0001290
16 cervical c2/c3 vertebral fusion 31 very rare (1%) HP:0004602
17 narrow forehead 31 very rare (1%) HP:0000341
18 short neck 31 HP:0000470
19 flexion contracture 31 HP:0001371
20 myopathy 31 HP:0003198
21 nemaline bodies 31 HP:0003798
22 cardiomyopathy 31 HP:0001638
23 thoracolumbar scoliosis 31 HP:0002944
24 acetabular dysplasia 31 HP:0008807

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis

Head And Neck Head:
microcephaly
low posterior hairline

Muscle Soft Tissue:
myopathy
nemaline bodies
hypotonia
atrophic fibers
muscle biopsy shows marked fiber size variability
more
Head And Neck Ears:
low-set ears

Head And Neck Nose:
bulbous nose
hypoplastic alae nasi

Head And Neck Mouth:
thin upper lip
high-arched palate
everted lower lip

Skeletal:
contractures

Voice:
hypophonic speech

Cardiovascular Heart:
cardiomyopathy (patient a)
small left ventricle (patient a)
hemodynamic instability (patient a)

Skeletal Pelvis:
acetabular dysplasia, bilateral

Head And Neck Neck:
short neck
webbed neck

Skeletal Skull:
microcephaly
transverse enlargement of the skull (patient a)

Head And Neck Face:
micrognathia
long philtrum

Skin Nails Hair Hair:
low posterior hairline

Skeletal Spine:
thoracolumbar scoliosis
fusion of cervical vertebrae

Skeletal Hands:
ulnar deviation
abnormal thumbs
camptomelic fingers
loss of interphalangeal creases

Growth Height:
short stature, mild

Head And Neck Teeth:
misaligned teeth
variably shaped teeth

Cardiovascular Vascular:
pulmonary hypertension (patient a)

Neurologic Central Nervous System:
hypotonia, central and peripheral
reduced spontaneous movements

Clinical features from OMIM®:

616549 (Updated 05-Apr-2021)

Drugs & Therapeutics for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline...

Search Clinical Trials , NIH Clinical Center for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism

Genetic Tests for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline...

Genetic tests related to Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism:

# Genetic test Affiliating Genes
1 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 29 MYO18B
2 Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism 29

Anatomical Context for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline...

Publications for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline...

Articles related to Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism:

# Title Authors PMID Year
1
A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy. 6 57
27858739 2015
2
A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. 57 6
25748484 2015
3
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. 6
26752647 2016
4
Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism. 61
33179433 2021

Variations for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline...

ClinVar genetic disease variations for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism:

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYO18B NM_032608.7(MYO18B):c.6496G>T (p.Glu2166Ter) SNV Pathogenic 224413 rs869312740 GRCh37: 22:26422436-26422436
GRCh38: 22:26026470-26026470
2 MYO18B NM_032608.7(MYO18B):c.1157del (p.Gly386fs) Deletion Pathogenic 1028968 GRCh37: 22:26165039-26165039
GRCh38: 22:25769072-25769072
3 MYO18B NM_032608.7(MYO18B):c.1A>G (p.Met1Val) SNV Pathogenic 1028969 GRCh37: 22:26157060-26157060
GRCh38: 22:25761093-25761093
4 MYO18B NM_032608.7(MYO18B):c.1385_1386del (p.Glu462fs) Microsatellite Pathogenic 1032972 GRCh37: 22:26165266-26165267
GRCh38: 22:25769299-25769300
5 MYO18B NM_032608.7(MYO18B):c.1453del (p.Gln485fs) Deletion Pathogenic 1032973 GRCh37: 22:26165335-26165335
GRCh38: 22:25769368-25769368
6 MYO18B NM_032608.7(MYO18B):c.2626C>T (p.Arg876Ter) SNV Pathogenic 81924 rs267606197 GRCh37: 22:26219576-26219576
GRCh38: 22:25823609-25823609
7 MYO18B NM_032608.7(MYO18B):c.6433C>T (p.Arg2145Ter) SNV Pathogenic 807635 rs753585568 GRCh37: 22:26400784-26400784
GRCh38: 22:26004818-26004818
8 MYO18B-AS1 , MYO18B NM_032608.7(MYO18B):c.4461dup (p.Leu1488fs) Duplication Pathogenic 1032975 GRCh37: 22:26287291-26287292
GRCh38: 22:25891324-25891325
9 MYO18B NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter) SNV Likely pathogenic 208842 rs556752387 GRCh37: 22:26422845-26422845
GRCh38: 22:26026879-26026879
10 MYO18B NM_032608.7(MYO18B):c.6768del (p.Leu2257fs) Deletion Likely pathogenic 590292 rs1569308524 GRCh37: 22:26422706-26422706
GRCh38: 22:26026740-26026740
11 MYO18B NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs) Deletion Likely pathogenic 590293 rs756408696 GRCh37: 22:26422599-26422609
GRCh38: 22:26026633-26026643
12 MYO18B NM_032608.7(MYO18B):c.6322C>T (p.Arg2108Ter) SNV Likely pathogenic 816785 rs773193391 GRCh37: 22:26399265-26399265
GRCh38: 22:26003299-26003299
13 MYO18B NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs) Duplication Likely pathogenic 634522 rs1569172839 GRCh37: 22:26299683-26299684
GRCh38: 22:25903716-25903717
14 MYO18B NM_032608.7(MYO18B):c.969_971AAG[1] (p.Arg325del) Microsatellite Uncertain significance 800994 rs1601634468 GRCh37: 22:26164851-26164853
GRCh38: 22:25768884-25768886
15 MYO18B NM_032608.7(MYO18B):c.3397C>T (p.Arg1133Trp) SNV Uncertain significance 816844 rs775800465 GRCh37: 22:26242095-26242095
GRCh38: 22:25846128-25846128
16 MYO18B NM_032608.7(MYO18B):c.7345C>T (p.Arg2449Trp) SNV Uncertain significance 587478 rs149103381 GRCh37: 22:26423285-26423285
GRCh38: 22:26027319-26027319
17 MYO18B NM_032608.7(MYO18B):c.988G>A (p.Gly330Ser) SNV Uncertain significance 547963 rs764491130 GRCh37: 22:26164871-26164871
GRCh38: 22:25768904-25768904
18 MYO18B NM_032608.7(MYO18B):c.4058G>A (p.Arg1353His) SNV Uncertain significance 587454 rs532777099 GRCh37: 22:26270359-26270359
GRCh38: 22:25874392-25874392
19 MYO18B NM_032608.7(MYO18B):c.3544C>G (p.Leu1182Val) SNV Uncertain significance 1032974 GRCh37: 22:26242242-26242242
GRCh38: 22:25846275-25846275
20 MYO18B NM_032608.7(MYO18B):c.3509C>T (p.Ala1170Val) SNV Uncertain significance 1028970 GRCh37: 22:26242207-26242207
GRCh38: 22:25846240-25846240
21 MYO18B NM_032608.7(MYO18B):c.3527C>T (p.Pro1176Leu) SNV Uncertain significance 1028971 GRCh37: 22:26242225-26242225
GRCh38: 22:25846258-25846258
22 MYO18B NM_032608.7(MYO18B):c.362C>G (p.Thr121Arg) SNV Uncertain significance 1028972 GRCh37: 22:26164245-26164245
GRCh38: 22:25768278-25768278
23 MYO18B NM_032608.7(MYO18B):c.5684G>A (p.Arg1895His) SNV Uncertain significance 1028973 GRCh37: 22:26343730-26343730
GRCh38: 22:25947764-25947764
24 MYO18B NM_032608.7(MYO18B):c.611C>T (p.Ala204Val) SNV Uncertain significance 1028974 GRCh37: 22:26164494-26164494
GRCh38: 22:25768527-25768527
25 MYO18B NM_032608.7(MYO18B):c.5239C>T (p.Arg1747Cys) SNV Uncertain significance 1032976 GRCh37: 22:26304379-26304379
GRCh38: 22:25908412-25908412
26 MYO18B NM_032608.7(MYO18B):c.2879C>T (p.Ala960Val) SNV Uncertain significance 744285 rs147134820 GRCh37: 22:26224835-26224835
GRCh38: 22:25828868-25828868

Expression for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline...

Search GEO for disease gene expression data for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism.

Pathways for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline...

GO Terms for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline...

Sources for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline...

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61 PubMed
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71 UMLS via Orphanet
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