MEOX1 gene related symptoms and diseases
All the information presented here about the MEOX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MEOX1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Very Common - Between 80% and 100% cases |
| Facial asymmetry | Very Common - Between 80% and 100% cases |
| Limited neck range of motion | Very Common - Between 80% and 100% cases |
| Decreased cervical spine mobility | Very Common - Between 80% and 100% cases |
| Abnormal vertebral segmentation and fusion | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MEOX1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cervical C2/C3 vertebral fusion
- Congenital muscular torticollis
- Fused cervical vertebrae
- Scoliosis
- Vertebral fusion
- Low posterior hairline
- Abnormality of the ribs
- Webbed neck
And 47 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MEOX1 gene
Here you will find a list of rare diseases related to the MEOX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOLATED KLIPPEL-FEIL SYNDROME
Alternate names
ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion, klippel-feil sequence, congenital fused cervical segments, klippel-feil malformation, cervical vertebral fusion, autosomal recessive, kfs, autosomal recessive
Description
Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.
Most common symptoms of ISOLATED KLIPPEL-FEIL SYNDROME
- Hearing impairment
- Scoliosis
- Hypertelorism
- Sensorineural hearing impairment
- Cleft palate
More info about ISOLATED KLIPPEL-FEIL SYNDROME
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1
Alternate names
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant, kfs
Description
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).
Most common symptoms of KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1
- Hearing impairment
- Scoliosis
- Sensorineural hearing impairment
- Cleft palate
- Macrocephaly
More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1
SOURCES: OMIM
Search interest in MEOX1
Potential gene panels for MEOX1 gene
MEOX1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MEOX1 gene.
More info about this panel Spain.
Klippel-Feil syndrome 2 (sequence analysis of MEOX1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MEOX1 gene.
More info about this panel Portugal.
Klippel-Feil syndrome (NGS panel for 5 genes) Panel
Portugal.
By CGC Genetics Klippel-Feil syndrome (NGS panel for 5 genes) that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel Portugal.
Klippel-Feil syndrome (NGS panel for 5 genes) Panel
Portugal.
By CGC Genetics Klippel-Feil syndrome (NGS panel for 5 genes) that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel Portugal.
Klippel-Feil Syndrome via MEOX1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the MEOX1 gene.
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Klippel-Feil syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Klippel-Feil syndrome Comprehensive panel that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel United States.
Klippel-Feil syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Klippel-Feil syndrome NGS panel that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel United States.
Klippel-Feil syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Klippel-Feil syndrome Deletion / Duplication panel that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel United States.
Klippel-feil syndrome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Klippel-feil syndrome panel that also includes the following genes: MYO18B GDF3 GDF6 MEOX1
More info about this panel Germany.
Klippel-Feil syndrome type 2, autosomal dominant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MEOX1 gene.
More info about this panel Germany.
Single gene testing MEOX1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the MEOX1 gene.
More info about this panel Germany.
Selected Genetic Syndromes with skeletal involvement Panel Panel
Germany.
By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6
More info about this panel Germany.
Klippel-Feil Syndrome Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Klippel-Feil Syndrome that also includes the following genes: GDF3 GDF6 MEOX1 PAX1
More info about this panel Poland.
qGenEx Craniofacial Anomalies Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panel Spain.
Isolated Klippel-Feil syndrome type 1 Panel
Spain.
By Bioarray
This panel specifically test the MEOX1 gene.
More info about this panel Spain.
KLIPPEL-FEIL SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL KLIPPEL-FEIL SYNDROME that also includes the following genes: GDF3 GDF6 MEOX1 PAX1
More info about this panel Spain.
KLIPPEL-FEIL SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL KLIPPEL-FEIL SYNDROME NGS PANEL that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1 PAX1
More info about this panel Spain.
Klippel-Feil Syndrome Type 2 , Sequencing MEOX1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the MEOX1 gene.
More info about this panel Spain.
Klippel-Feil Syndrome , Panel Massive Sequencing (NGS) GDF3, GDF6, MEOX1 Genes Panel
Spain.
By Reference Laboratory Genetics Klippel-Feil Syndrome , Panel Massive Sequencing (NGS) GDF3, GDF6, MEOX1 Genes that also includes the following genes: GDF3 GDF6 MEOX1
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NNT