Syndactyly, Type V; Sdty5

Description

Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.

Clinical Features

Top most frequent phenotypes and symptoms related to Syndactyly, Type V; Sdty5

  • Brachydactyly
  • Clinodactyly of the 5th finger
  • Syndactyly
  • Camptodactyly of finger
  • Abnormality of the foot
  • Short distal phalanx of finger
  • Joint contracture of the hand
  • 2-3 toe syndactyly
  • Tarsal synostosis
  • Cutaneous finger syndactyly
And another 11 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Syndactyly, Type V; Sdty5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HOXD13 - Related Brachydactyly.

By Centre of Molecular Diseases (CMM) CHUV in Switzerland.

HOXD13
Specificity
100 %
Genes
100 %
HOXD13 Gene Sequencing.

By GeneDx in United States.

HOXD13
Specificity
100 %
Genes
100 %
HOXD13. Complete sequencing.

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

HOXD13
Specificity
100 %
Genes
100 %
VATERL association (sequence analysis of HOXD13 gene).

By CGC Genetics in Portugal.

HOXD13
Specificity
100 %
Genes
100 %
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
2 %
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 %
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 %
Syndactyly type 1.

By Centogene AG - the Rare Disease Company in Germany.

HOXD13
Specificity
100 %
Genes
100 %
Syndactyly type 5.

By Centogene AG - the Rare Disease Company in Germany.

HOXD13
Specificity
100 %
Genes
100 %
Vater association.

By Centogene AG - the Rare Disease Company in Germany.

HOXD13
Specificity
100 %
Genes
100 %
Single gene testing HOXD13.

By CeGaT GmbH in Germany.

HOXD13
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
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
3 %
Genes
100 %
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
1 %
Genes
100 %
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
1 %
Genes
100 %
HOXD13.

By Fulgent Genetics Fulgent Genetics in United States.

HOXD13
Specificity
100 %
Genes
100 %
Brachydactyly / Syndactyly Panel.

By Blueprint Genetics in Finland.

RECQL4, DHCR7, CHSY1, SOX9, TP63, BMPR1B, GNAS, MYCN, ESCO2, HOXA13, ROR2, CCNQ, PDE4D, PTDSS1, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
5 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Brachydactyly type E.

By Bioarray in Spain.

HOXD13
Specificity
100 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
BRACHYDACTYLY TYPE D & TYPE E.

By Laboratorio de Genetica Clinica SL in Spain.

HOXD13
Specificity
100 %
Genes
100 %
Brachydactyly Type E, Sequencing HOXD13 Gene.

By Reference Laboratory Genetics in Spain.

HOXD13
Specificity
100 %
Genes
100 %
Synpolydactyly , Panel Massive Sequencing (NGS) FBLN1, HOXD13 Genes.

By Reference Laboratory Genetics in Spain.

HOXD13, FBLN1
Specificity
50 %
Genes
100 %
Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

RECQL4, CHSY1, SOX9, TP63, BMPR1B, GNAS, MGP, ESCO2, HOXA13, ROR2, TBX15, WNT7A, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
6 %
Genes
100 %
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
100 %

Alternate names

Syndactyly, Type V; Sdty5 Is also known as syndactyly with metacarpal and metatarsal fusion;postaxial syndactyly with metacarpal synostosis; sd5.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WAARDENBURG SYNDROME, TYPE 4B; WS4B IMMUNODEFICIENCY 50; IMD50 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1 ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD ATELOSTEOGENESIS, TYPE I; AO1 BEHCET SYNDROME CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1