EFNB1 gene related symptoms and diseases
All the information presented here about the EFNB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EFNB1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Hand polydactyly | Very Common - Between 80% and 100% cases |
Thickened nuchal skin fold | Very Common - Between 80% and 100% cases |
Sprengel anomaly | Very Common - Between 80% and 100% cases |
Shawl scrotum | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with EFNB1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Curly hair
- Cutaneous finger syndactyly
- Abnormality of digit
- Broad hallux
- Bilateral cryptorchidism
- Hypoplastic toenails
- Pterygium
- Coronal craniosynostosis
And 88 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EFNB1 gene
Here you will find a list of rare diseases related to the EFNB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CRANIOFRONTONASAL DYSPLASIA
Alternate names
CRANIOFRONTONASAL DYSPLASIA Is also known as cfnd, cfns, craniofrontonasal syndrome, craniofrontonasal dysostosis, craniofrontonasal dysplasia
Description
Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.
Most common symptoms of CRANIOFRONTONASAL DYSPLASIA
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about CRANIOFRONTONASAL DYSPLASIA
Search interest in EFNB1
Potential gene panels for EFNB1 gene
Craniofrontonasal Dysplasia - EFNB1 Sequencing Panel
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By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/United-states.png)
Craniofrontonasal Dysplasia Panel
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By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/United-states.png)
Craniosynostosis Panel
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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![](/img/flags/United-states.png)
Hypospadias Sequencing Panel Panel
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By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2
More info about this panel![](/img/flags/United-states.png)
Craniofacial Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Craniofacial Deletion/Duplication Panel Panel
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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![](/img/flags/United-states.png)
Facial Dysostosis Sequencing Panel Panel
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By Genetic Services Laboratory University of Chicago Facial Dysostosis Sequencing Panel that also includes the following genes: SF3B4 TCOF1 ALX1 EVC2 POLR1C POLR1D CHD7 DHODH ZSWIM6 EFTUD2
More info about this panel![](/img/flags/United-states.png)
EFNB1 Gene Sequencing Panel
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By GeneDx
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/United-states.png)
Craniosynostosis Panel
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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![](/img/flags/United-states.png)
EFNB1. Complete sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Craniofrontonasal Syndrome - EFNB1 Sequence and Del/Dup Analysis Panel
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By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/United-states.png)
Craniofrontonasal Syndrome - EFNB1 Deletion/Duplication Analysis Panel
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By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/United-states.png)
Craniofrontonasal Syndrome - EFNB1 Sequence Analysis Panel
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By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/United-states.png)
Craniofrontonasal Syndrome - EFNB1 Known Point Mutation Analysis Panel
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By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/United-states.png)
Craniosynostosis Sequence Analysis Panel
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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![](/img/flags/United-states.png)
Craniofacial Del/Dup Panel Panel
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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![](/img/flags/United-states.png)
Craniosynostosis Del/Dup Panel Panel
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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![](/img/flags/United-states.png)
Craniosynostosis Seq + Del/Dup Panel Panel
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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![](/img/flags/United-states.png)
Craniofacial Seq + Del/Dup Panel Panel
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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![](/img/flags/United-states.png)
Craniofacial Seq Analysis Panel
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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![](/img/flags/United-states.png)
Craniofrontonasal dysplasia (deletion/duplication analysis on EFNB1 gene) Panel
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By CGC Genetics
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Craniosynostosis (NGS panel for 30 genes) Panel
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By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Craniofrontonasal dysplasia (sequence analysis of EFNB1 gene) Panel
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By CGC Genetics
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) Panel
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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![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Craniofrontonasal Syndrome via EFNB1 Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/United-states.png)
Hypospadias Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4
More info about this panel![](/img/flags/United-states.png)
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel![](/img/flags/United-states.png)
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel![](/img/flags/United-states.png)
Opitz G/BBB Syndrome Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Opitz G/BBB Syndrome Sequencing Panel with CNV Detection that also includes the following genes: MED12 ZEB2 CASK SPECC1L EFNB1 FLNA MID1
More info about this panel![](/img/flags/United-states.png)
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
Craniosynostosis Deletion / Duplication panel Panel
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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![](/img/flags/United-states.png)
Craniosynostosis Comprehensive panel Panel
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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![](/img/flags/United-states.png)
Craniosynostosis NGS panel Panel
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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![](/img/flags/United-states.png)
Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel Panel
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By Connective Tissue Gene Tests Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel that also includes the following genes: SIX2 ALX1 EFNB1 ALX3 ALX4
More info about this panel![](/img/flags/United-states.png)
Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel Panel
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By Connective Tissue Gene Tests Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel that also includes the following genes: SIX2 ALX1 EFNB1 ALX3 ALX4
More info about this panel![](/img/flags/United-states.png)
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel Panel
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By Connective Tissue Gene Tests Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel that also includes the following genes: SIX2 ALX1 EFNB1 ALX3 ALX4
More info about this panel![](/img/flags/United-states.png)
Mental Retardation and Dysmorphology - panels Panel
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By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Syndromal Diseases - panels Panel
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By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Craniosynostosis syndromes Panel Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Single gene testing EFNB1 Panel
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By CeGaT GmbH
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Craniofrontonasal Syndrome Panel
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By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
qGenEx Craniofacial Anomalies Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Craniosysostosis Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Intellectual Disability NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel![](/img/flags/United-states.png)
EFNB1 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/United-states.png)
X-chromosome High Resolution microarray analysis Panel
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By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel![](/img/flags/United-states.png)
Facial Dysostosis and Related Disorders Panel Panel
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By Blueprint Genetics Facial Dysostosis and Related Disorders Panel that also includes the following genes: SF3B4 SMC1A TCOF1 TWIST1 UBE2A HDAC8 SRCAP EVC2 POLR1C POLR1D
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Craniosynostosis Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Craniofrontonasal dysplasia Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Bioarray
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Rapid microarray (CGH and SNP) Panel
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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![](/img/flags/United-states.png)
High-Resolution Rapid Microarray (CGH and SNP) Panel
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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![](/img/flags/United-states.png)
CRANIOFRONTONASAL DYSPLASIA Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Laboratorio de Genetica Clinica SL
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
CRANIOSYNOSTOSIS NGS PANEL Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Craniofrontonasal Dysplasia , Sequencing EFNB1 Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Craniofrontonasal Dysplasia , Deletions-Duplications (MLPA) EFNB1 Gene Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics
This panel specifically test the EFNB1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Frontonasal Dysplasia , Panel Massive Sequencing (NGS) 4 Genes Panel
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By Reference Laboratory Genetics Frontonasal Dysplasia , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: ALX1 EFNB1 ALX3 ALX4
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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