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.

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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

SOURCES: OMIM ORPHANET

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). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

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


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

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

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

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

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

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

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

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

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

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

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

Single gene testing MEOX1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the MEOX1 gene.

More info about this panel

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

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

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

Isolated Klippel-Feil syndrome type 1 Panel

Spain.

By Bioarray

This panel specifically test the MEOX1 gene.

More info about this panel

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

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

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

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


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