MSX2 gene related symptoms and diseases

All the information presented here about the MSX2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MSX2 gene

Symptoms // Phenotype % Cases
Seizures Common - Between 50% and 80% cases
Headache Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Parietal foramina Common - Between 50% and 80% cases
Symmetrical, oval parietal bone defects Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with MSX2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Spina bifida
  • Encephalocele
  • Cleft upper lip
  • Confusion
  • Cleft palate
  • Metopic synostosis
  • Dermoid cyst
  • Widely patent fontanelles and sutures

And 30 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MSX2 gene

Here you will find a list of rare diseases related to the MSX2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CRANIOSYNOSTOSIS, BOSTON TYPE


Alternate names

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb, warman-mulliken-hayward syndrome, craniosynostosis, warman type, craniosynostosis, boston-type

Description

Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

Most common symptoms of CRANIOSYNOSTOSIS, BOSTON TYPE

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


More info about CRANIOSYNOSTOSIS, BOSTON TYPE

SOURCES: OMIM ORPHANET

PARIETAL FORAMINA WITH CLAVICULAR HYPOPLASIA


Alternate names

PARIETAL FORAMINA WITH CLAVICULAR HYPOPLASIA Is also known as parietal foramina with cleidocranial dysplasia, cleidocranial dysplasia with parietal foramina

Description

Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.

Most common symptoms of PARIETAL FORAMINA WITH CLAVICULAR HYPOPLASIA

  • Macrocephaly
  • Microtia
  • Broad forehead
  • Short clavicles
  • Abnormality of the clavicle


More info about PARIETAL FORAMINA WITH CLAVICULAR HYPOPLASIA

SOURCES: MESH ORPHANET OMIM

ENLARGED PARIETAL FORAMINA


Alternate names

ENLARGED PARIETAL FORAMINA Is also known as fpp, cranium bifidum occultum, fenestrae parietales symmetricae, hereditary cranium bifidum, catlin marks, pfm, parietal foramina, symmetric, cranium bifidum, hereditary, symmetric parietal foramina, foramina parietalia permagna

Description

Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.

Most common symptoms of ENLARGED PARIETAL FORAMINA

  • Seizures
  • Cleft palate
  • Macrocephaly
  • Headache
  • Confusion


More info about ENLARGED PARIETAL FORAMINA

SOURCES: OMIM ORPHANET


Potential gene panels for MSX2 gene

NGS Craniosynostosis Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Craniosynostosis Panel that also includes the following genes: TWIST1 RAB23 FGFR1 FGFR2 MSX2 POR RECQL4

More info about this panel

Craniosynostosis Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Craniosynostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 ASXL1 WDR19 WDR35 IFT43

More info about this panel

Craniofacial Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1

More info about this panel

Craniofacial Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1

More info about this panel

Craniosynostosis Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Craniosynostosis that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45

More info about this panel

MSX2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MSX2 gene.

More info about this panel

Craniosynostosis Sequence Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Sequence Analysis that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35

More info about this panel

Craniofacial Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniosynostosis Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35

More info about this panel

Craniosynostosis Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Seq + Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35

More info about this panel

Craniofacial Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniofacial Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniosynostosis type 2 (sequence analysis of MSX2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MSX2 gene.

More info about this panel

Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) Panel

Portugal.

By CGC Genetics Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) that also includes the following genes: RUNX2 TWIST1 ALX1 EFNB1 FGFR1 FGFR2 FGFR3 ALX3 ALX4 MSX2

More info about this panel

Craniosynostosis via MSX2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MSX2 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

Craniosynostosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Deletion / Duplication panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Comprehensive panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis NGS panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Parietal foramina type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MSX2 gene.

More info about this panel

Craniosynostosis type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MSX2 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Craniosynostosis syndromes Panel Panel

Germany.

By CeGaT GmbH Craniosynostosis syndromes Panel that also includes the following genes: SKI TCF12 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43 EFNB1

More info about this panel

Craniosynostosis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Craniosynostosis that also includes the following genes: TWIST1 FGFR1 FGFR2 FGFR3 IL11RA MSX2 RECQL4

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

Invitae Craniosynostosis Panel Panel

United States.

By Invitae Invitae Craniosynostosis Panel that also includes the following genes: TWIST1 RAB23 MEGF8 ERF FGFR1 FGFR2 FGFR3 GLI3 MSX2

More info about this panel

Craniosysostosis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Craniosysostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43

More info about this panel

MSX2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MSX2 gene.

More info about this panel

Craniosynostosis Panel Panel

Finland.

By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Craniosynostosis Type II Panel

Spain.

By Bioarray

This panel specifically test the MSX2 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

CRANIOSYNOSTOSIS , BOSTON TYPE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the MSX2 gene.

More info about this panel

PARIETAL FORAMINA TYPE 1 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the MSX2 gene.

More info about this panel

CRANIOSYNOSTOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS NGS PANEL that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1

More info about this panel

Craniosynostosis Type II, Sequencing MSX2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MSX2 gene.

More info about this panel

Cleidocranial Dysplasia, Panel Massive Sequencing (NGS) RUNX2, ALX4, MSX2 Genes Panel

Spain.

By Reference Laboratory Genetics Cleidocranial Dysplasia, Panel Massive Sequencing (NGS) RUNX2, ALX4, MSX2 Genes that also includes the following genes: RUNX2 ALX4 MSX2

More info about this panel

Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: TWIST1 RAB23 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 MSX2 POR

More info about this panel

Enlarged Parietal Foramina: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Enlarged Parietal Foramina: gene sequencing panel that also includes the following genes: ALX4 MSX2

More info about this panel


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