MCID: KLP016
MIFTS: 20

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

Categories: Genetic diseases, Neuronal diseases, Bone diseases, Fetal 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 75 29 6
Kfs4 57 75
Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism 57
Klippel-Feil Anomaly-Myopathy-Facial Dysmorphism Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
klippel-feil anomaly-myopathy-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616549
Orphanet 59 ORPHA447974
ICD10 via Orphanet 34 Q76.1
MeSH 44 D007714

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

UniProtKB/Swiss-Prot : 75 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, is also known as kfs4. An important gene associated with Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism is MYO18B (Myosin XVIIIB). Affiliated tissues include bone, and related phenotypes are low-set ears and short neck

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)

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Head And Neck Eyes:
ptosis

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

Head And Neck Face:
long philtrum
micrognathia

Head And Neck Nose:
bulbous nose
hypoplastic alae nasi

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

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
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

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

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 short neck 32 HP:0000470
3 ptosis 32 HP:0000508
4 microcephaly 32 HP:0000252
5 myopathy 32 HP:0003198
6 long philtrum 32 HP:0000343
7 micrognathia 32 HP:0000347
8 everted lower lip vermilion 32 HP:0000232
9 webbed neck 32 HP:0000465
10 low posterior hairline 32 HP:0002162
11 underdeveloped nasal alae 32 HP:0000430
12 bulbous nose 32 HP:0000414
13 thin upper lip vermilion 32 HP:0000219
14 fused cervical vertebrae 32 HP:0002949
15 mild short stature 32 HP:0003502
16 acetabular dysplasia 32 HP:0008807
17 thoracolumbar scoliosis 32 HP:0002944

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

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

MalaCards organs/tissues related to Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism:

41
Bone

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

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
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO18B NM_001318245.1(MYO18B): c.6908C> A (p.Ser2303Ter) single nucleotide variant Pathogenic rs556752387 GRCh37 Chromosome 22, 26422845: 26422845
2 MYO18B NM_001318245.1(MYO18B): c.6908C> A (p.Ser2303Ter) single nucleotide variant Pathogenic rs556752387 GRCh38 Chromosome 22, 26026879: 26026879
3 MYO18B NM_032608.6(MYO18B): c.6496G> T (p.Glu2166Ter) single nucleotide variant Pathogenic rs869312740 GRCh37 Chromosome 22, 26422436: 26422436
4 MYO18B NM_032608.6(MYO18B): c.6496G> T (p.Glu2166Ter) single nucleotide variant Pathogenic rs869312740 GRCh38 Chromosome 22, 26026470: 26026470

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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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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