Syndactyly, Type Iv; Sdty4

Description

Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).

Clinical Features

Top most frequent phenotypes and symptoms related to Syndactyly, Type Iv; Sdty4

  • Syndactyly
  • Polydactyly
  • Camptodactyly of finger
  • Toe syndactyly
  • Limitation of joint mobility
  • Hand polydactyly
  • Triphalangeal thumb
  • Cutaneous syndactyly
  • 2-3 toe syndactyly
  • Foot polydactyly
And another 7 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.


Mendelian

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Syndactyly, Type Iv; Sdty4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc in United States.

PAX6, CPT2, SHH, SLC25A19, TUBA1A, FGFR3, ARX, WDR62, FKTN, PEX7, POMGNT1, DPYD, FKRP, POMT2, POMT1, LAMA2, LARGE1, MCPH1, ASPM, FOLR1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
50 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
50 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
Holoprosencephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

SHH, PTCH1, FGF8, SIX3, TGIF1, ZIC2, NODAL, FOXH1, CDON, GLI2, DLL1, GAS1, DISP1
Specificity
8 %
Genes
50 %
Septo-Optic Dysplasia and Schizencephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

SHH, SOX2, HESX1, COL4A1, EMX2, SIX3
Specificity
17 %
Genes
50 %
Holoprosencephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SHH, PTCH1, FGFR1, FGF8, SIX3, STIL, TGIF1, ZIC2, CDON, GLI2
Specificity
10 %
Genes
50 %
Holoprosencephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SHH, PTCH1, FGFR1, FGF8, SIX3, STIL, TGIF1, ZIC2, CDON, GLI2
Specificity
10 %
Genes
50 %
SHH.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SHH
Specificity
100 %
Genes
50 %
Holoprosencephaly Panel, Nonsyndromic Sequencing and Deletion/Duplication, 11 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

SHH, PTCH1, FGF8, SIX3, TGIF1, ZIC2, NODAL, FOXH1, GLI2, DISP1, TDGF1
Specificity
10 %
Genes
50 %
SHH. Complete sequencing.

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

SHH
Specificity
100 %
Genes
50 %
Holoprosencephaly (deletions/ duplications on PTCH, SHH, ZIC2, SIX3, TGIF, TMEM1 and FBXW11 genes).

By CGC Genetics in Portugal.

SHH, PTCH1, SIX3, TGIF1, ZIC2, FBXW11, TRAPPC10
Specificity
15 %
Genes
50 %
Holoprosencephaly (sequence analysis of SHH gene).

By CGC Genetics in Portugal.

SHH
Specificity
100 %
Genes
50 %
Holoprosencephaly (NGS panel for 9 genes).

By CGC Genetics in Portugal.

SHH, PTCH1, FGF8, SIX3, TGIF1, ZIC2, CDON, GLI2, GLI3
Specificity
12 %
Genes
50 %
Microphthalmia (NGS panel for 26 genes).

By CGC Genetics in Portugal.

RAX, ABCB6, MFRP, OTX2, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, CHD7, NAA10, MITF, GDF6, RARB, VAX1, FREM1, VSX2, BMP4, GDF3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Holoprosencephaly (deletion/duplication analysis on SHH gene).

By CGC Genetics in Portugal.

SHH
Specificity
100 %
Genes
50 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
3 %
Genes
100 %
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SHH, PTCH1, FGF8, SIX3, TGIF1, ZIC2, NODAL, FOXH1, CDON, GLI2, DLL1, GAS1, DISP1, TDGF1
Specificity
8 %
Genes
50 %
Holoprosencephaly-3 (Autosomal Dominant Nonsyndromic) via SHH Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SHH
Specificity
100 %
Genes
50 %
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 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
50 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
50 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).

By MGZ Medical Genetics Center in Germany.

FOXL2, RAX, ABCB6, OCRL, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, RAB3GAP1, SIX3, VPS13B , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Holoprosencephaly (Autosomal Dominant, Nonsyndromic) Sequential Panel.

By FirmaLab in United States.

SHH, PTCH1, SIX3, TGIF1, ZIC2, GLI1
Specificity
17 %
Genes
50 %
Holoprosencephaly panel.

By Centogene AG - the Rare Disease Company in Germany.

SHH, PTCH1, FGF8, SIX3, TGIF1, ZIC2, CDON, GLI2, GLI3
Specificity
12 %
Genes
50 %
Holoprosencephaly 3.

By Centogene AG - the Rare Disease Company in Germany.

SHH
Specificity
100 %
Genes
50 %
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
50 %
Holoprosencephaly Panel.

By CeGaT GmbH in Germany.

SHH, PTCH1, SIX3, TGIF1, ZIC2, CDON, GLI2
Specificity
15 %
Genes
50 %
Holoprosencephaly Panel.

By CeGaT GmbH in Germany.

SHH, PTCH1, SIX3, TGIF1, ZIC2, CDON, GLI2
Specificity
15 %
Genes
50 %
Microphthalmy Panel.

By CeGaT GmbH in Germany.

RAX, ABCB6, MFRP, OTX2, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, CHD7, NAA10, GDF6, RBP4, RARB, VAX1, FREM1, VSX2, BMP4, GDF3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Single gene testing SHH.

By CeGaT GmbH in Germany.

SHH
Specificity
100 %
Genes
50 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory in United States.

RAX, PAX6, PITX3, ABCB6, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, CRX, STRA6, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, FKTN , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
SHH-Related Holoprosencephaly.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

SHH
Specificity
100 %
Genes
50 %
Holoprosencephaly 3.

By Praxis fuer Humangenetik Wien in Austria.

SHH
Specificity
100 %
Genes
50 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
50 %
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
50 %
Holoprosencephaly 3.

By MedGene in Slovakia.

SHH
Specificity
100 %
Genes
50 %
Invitae Holoprosencephaly Panel.

By Invitae in United States.

SHH, SIX3, TGIF1, ZIC2, GLI2
Specificity
20 %
Genes
50 %
Invitae Microphthalmia/Anophthalmia Disorders Panel.

By Invitae in United States.

RAX, MFRP, OTX2, SHH, STRA6, BCOR, SOX2, PAX2, GDF6, FOXE3, VSX2, BMP4, PRSS56, ALDH1A3, PXDN
Specificity
7 %
Genes
50 %
Holoprosencephaly 3: SHH gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SHH
Specificity
100 %
Genes
50 %
Single median maxillary central incisor: SHH gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SHH
Specificity
100 %
Genes
50 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
50 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, CC2D2A, CEP290, SHH, MKS1, FGFR3, FGFR2, NIPBL, PIGV, SALL1, CHSY1, SOX9, GLI3, TP63, CDH3, BMPR1B, PITX1, FGF10, SALL4, TBX5 , (...)

View the complete list with 26 more genes
Specificity
5 %
Genes
100 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
50 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
2 %
Genes
100 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
50 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
2 %
Genes
100 %
Holoproscencephaly NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SHH, PTCH1, SIX3, TGIF1, ZIC2, CDON, GLI2
Specificity
15 %
Genes
50 %
SHH.

By Fulgent Genetics Fulgent Genetics in United States.

SHH
Specificity
100 %
Genes
50 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
50 %
Holoprosencephaly Panel.

By Blueprint Genetics in Finland.

SHH, PTCH1, FGFR1, FGF8, SIX3, TGIF1, ZIC2, NODAL, FOXH1, CDON, GLI2, GLI3
Specificity
9 %
Genes
50 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

FOXL2, RAX, PAX6, ABCB6, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Holoprosencephaly type 3.

By Bioarray in Spain.

SHH
Specificity
100 %
Genes
50 %
CNS Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

PTEN, TP53, WT1, RB1, SHH, IDH2, BRAF, KRAS, FGFR2, PTCH1, NF2, SUFU, CDKN2A, MET, NTRK1, NF1, FGFR1, SETD2, ATRX, MED12 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
ANOPHTHALMIA/ MICROPHTALMIA.

By Laboratorio de Genetica Clinica SL in Spain.

RAX, OTX2, SHH, SIX6, SOX2, VSX2
Specificity
17 %
Genes
50 %
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

RAX, ABCB6, MFRP, OTX2, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, NAA10, GDF6, RARB, VSX2, CRYBA4, BMP4, GDF3, PRSS56, TENM3, ALDH1A3 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Solitary Median Maxillary Central Incisor Syndrome , Sequencing SHH Gene.

By Reference Laboratory Genetics in Spain.

SHH
Specificity
100 %
Genes
50 %
Holoprosencephaly Type 3 , Sequencing SHH Gene.

By Reference Laboratory Genetics in Spain.

SHH
Specificity
100 %
Genes
50 %
Holoprosencephaly Type 3 , Deletions-Duplications (MLPA) SHH Gene.

By Reference Laboratory Genetics in Spain.

SHH
Specificity
100 %
Genes
50 %
Schizencephaly , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

SHH, COL4A1, EMX2, SIX3
Specificity
25 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
Holoprosencephaly: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SHH, PTCH1, FGF8, SIX3, TGIF1, ZIC2, NODAL, FOXH1, CDON, GLI2, DLL1, GAS1, DISP1, TDGF1
Specificity
8 %
Genes
50 %
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
50 %
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
50 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH in Germany.

TRPV4, GLI3, TP63, BMPR1B, GJA1, HOXA11, ROR2, WNT7A, LRP4, HOXD13, PTHLH, GDF5, WNT10B, BMP2, BHLHA9, IHH, FBLN1, NOG, LMBR1, FGF16
Specificity
5 %
Genes
50 %
LMBR1.

By Fulgent Genetics Fulgent Genetics in United States.

LMBR1
Specificity
100 %
Genes
50 %
Ectrodactyly and Related Disorders , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

TP63, WNT10B, WNT3, LMBR1
Specificity
25 %
Genes
50 %

Alternate names

Syndactyly, Type Iv; Sdty4 Is also known as haas type syndactyly, polysyndactyly, haas type, sd4;polysyndactyly, haas type.



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