Frontonasal Dysplasia 3; Fnd3

Clinical Features

Top most frequent phenotypes and symptoms related to Frontonasal Dysplasia 3; Fnd3

  • Intellectual disability
  • Hypertelorism
  • Ptosis
  • Cleft palate
  • Cataract
  • Epicanthus
  • Brachydactyly
  • Wide nasal bridge
  • Hypoplasia of the corpus callosum
  • Intellectual disability, mild
And another 34 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Frontonasal Dysplasia 3; Fnd3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

RAX, ABCB6, MFRP, OTX2, NHS, STRA6, HCCS, BCOR, SIX6, SOX2, PAX2, PORCN, COL4A1, TFAP2A, GLI3, GDF6, FOXE3, GJA1, RARB, VAX1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Craniofacial Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Craniofacial Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Facial Dysostosis Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

DHODH, CHD7, PRKAR1A, POLR1C, TCOF1, POLR1D, ALX4, EFNB1, EFTUD2, EVC, EVC2, MYCN, ALX1, PDE4D, ALX3, ZSWIM6, SF3B4
Specificity
6 %
Genes
100 %
ALX1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ALX1
Specificity
100 %
Genes
100 %
Craniofacial Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Frontonasal dysplasia 3 (sequence analysis of ALX1 gene).

By CGC Genetics in Portugal.

ALX1
Specificity
100 %
Genes
100 %
Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes).

By CGC Genetics in Portugal.

FGFR3, RUNX2, FGFR2, FGFR1, MSX2, TWIST1, ALX4, EFNB1, ALX1, ALX3
Specificity
10 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
100 %
Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ALX4, EFNB1, ALX1, ALX3, SIX2
Specificity
20 %
Genes
100 %
Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ALX4, EFNB1, ALX1, ALX3, SIX2
Specificity
20 %
Genes
100 %
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

ALX4, EFNB1, ALX1, ALX3, SIX2
Specificity
20 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
ALX1.

By Fulgent Genetics Fulgent Genetics in United States.

ALX1
Specificity
100 %
Genes
100 %
Frontonasal dysplasia type 3.

By Bioarray in Spain.

ALX1
Specificity
100 %
Genes
100 %
FRONTONASAL DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

ALX4, ALX1, ALX3
Specificity
34 %
Genes
100 %
Frontonasal Dysplasia Type 3, Sequencing ALX1 Gene.

By Reference Laboratory Genetics in Spain.

ALX1
Specificity
100 %
Genes
100 %
Frontonasal Dysplasia , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

ALX4, EFNB1, ALX1, ALX3
Specificity
25 %
Genes
100 %

Alternate names

Frontonasal Dysplasia 3; Fnd3 Is also known as ;alx1-related frontonasal dysplasia; frontonasal dysplasia type 3.



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