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.
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
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
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
Search interest in MSX2
Potential gene panels for MSX2 gene
NGS Craniosynostosis Panel Panel
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 panelCraniosynostosis Panel
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 panelCraniofacial Sequencing Panel Panel
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 panelCraniofacial Deletion/Duplication Panel Panel
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 panelCraniosynostosis Panel
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 panelMSX2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MSX2 gene.
More info about this panelCraniosynostosis Sequence Analysis Panel
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 panelCraniofacial Del/Dup Panel Panel
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 panelCraniosynostosis Del/Dup Panel Panel
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 panelCraniosynostosis Seq + Del/Dup Panel Panel
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 panelCraniofacial Seq + Del/Dup Panel Panel
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 panelCraniofacial Seq Analysis Panel
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 panelCraniosynostosis type 2 (sequence analysis of MSX2 gene) Panel
By CGC Genetics
This panel specifically test the MSX2 gene.
More info about this panelCraniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) Panel
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 panelCraniosynostosis via MSX2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the MSX2 gene.
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
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 panelCraniosynostosis Deletion / Duplication panel Panel
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 panelCraniosynostosis Comprehensive panel Panel
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 panelCraniosynostosis NGS panel Panel
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 panelParietal foramina type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MSX2 gene.
More info about this panelCraniosynostosis type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MSX2 gene.
More info about this panelAllNeuro panel Panel
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 panelCraniosynostosis syndromes Panel Panel
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 panelCraniosynostosis Panel
By Asper Biogene Asper Biogene LLC Craniosynostosis that also includes the following genes: TWIST1 FGFR1 FGFR2 FGFR3 IL11RA MSX2 RECQL4
More info about this panelqGenEx Craniofacial Anomalies Panel
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 panelInvitae Craniosynostosis Panel Panel
By Invitae Invitae Craniosynostosis Panel that also includes the following genes: TWIST1 RAB23 MEGF8 ERF FGFR1 FGFR2 FGFR3 GLI3 MSX2
More info about this panelCraniosysostosis Panel
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 panelMSX2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MSX2 gene.
More info about this panelCraniosynostosis Panel Panel
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 panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
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 panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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 panelCraniosynostosis Type II Panel
By Bioarray
This panel specifically test the MSX2 gene.
More info about this panelRapid microarray (CGH and SNP) Panel
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 panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
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 panelCRANIOSYNOSTOSIS , BOSTON TYPE Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the MSX2 gene.
More info about this panelPARIETAL FORAMINA TYPE 1 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the MSX2 gene.
More info about this panelCRANIOSYNOSTOSIS NGS PANEL Panel
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 panelCraniosynostosis Type II, Sequencing MSX2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the MSX2 gene.
More info about this panelCleidocranial Dysplasia, Panel Massive Sequencing (NGS) RUNX2, ALX4, MSX2 Genes Panel
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 panelSyndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes Panel
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 panelEnlarged Parietal Foramina: gene sequencing panel Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SDHAF2 KANK2 FBN2 SRPX2 PIKFYVE APOB MAP3K7