Synpolydactyly Type 2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Synpolydactyly Type 2

FBLN1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Synpolydactyly Type 2

Syndactyly
Polydactyly
Toe syndactyly
Tarsal synostosis
Carpal synostosis
Metacarpal synostosis
Metatarsal synostosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Synpolydactyly Type 2 Is also known as spd2, spd, debeer type, sd2, debeer type, synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses, sd2b, synpolydactyly, debeer type.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Synpolydactyly Type 2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Limb Malformation Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...) View the complete list with 48 more genes Panel complete gene list ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63, FIG4, CHSY1, CDH3, DOCK6, GREM1, BRIP1, FANCL, DYM, FANCM, SLX4, FANCI, PIGV, PALB2, ESCO2, DHODH, NIPBL, CEP290, RPGRIP1L, ARHGAP31, CC2D2A, KIF7, ERCC4, FANCA, FANCD2, FANCE, FANCF, FANCG, FBLN1, FGF10, FGFR2, FGFR3, FLNA, FMN1, GDF5, GLI3, GNAS, HOXD13, IHH, LRP4, MGP, MKS1, MYCN, NOG, NOTCH1, PITX1, RAD51C, RBM8A, RECQL4 Specificity 2 % Genes 100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...) View the complete list with 236 more genes Panel complete gene list RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TGFB1, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TRIP11, TRPS1, ACP5, TWIST1, TYROBP, VDR, CCN6, WNT1, WNT3, WNT5A, WNT7A, ZMPSTE24, ADAMTS10, LMBR1, HDAC8, NSDHL, IFT122, CA2, SOST, HDAC4, NSD1, RAB23, ADAMTSL2, ALX1, SNX10, SERPINH1, ANKH, XYLT1, SALL4, HES7, TP63, PCNT, RAB33B, IFITM5, SRCAP, ACVR1, ADAMTS17, ORC6, CHSY1, SP7, CDC6, CDH3, AFF4, B3GALT6, TRPV4, FKBP10, ASXL1, WDR19, PROK2, FKBP14, RIN2, DOCK6, P3H1, SBDS, CHST3, CANT1, EVC2, GREM1, POLR1C, CLCN7, SLC34A3, SMOC1, TGDS, SULF1, POLR1D, SLC35D1, SLC39A13, CUL7, ANKRD11, DYM, OSTM1, LHX4, ADAMTS2, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, COL27A1, TRAPPC2, FERMT3, ZNF469, FREM1, CREBBP, CRTAP, BMPER, CHST14, TCTN3, CDT1, SMC3, FAM111A, CTSK, DDX59, CCDC8, TMEM38B, TTC21B, GORAB, IMPAD1, PIGV, CYP27B1, PIEZO2, CEP120, AMER1, ESCO2, DDR2, ANO5, CCNQ, EOGT, DHCR24, DHODH, NIPBL, LEMD3, IFT140, DLL3, OBSL1, ARHGAP31, WDR35, IFT80, DMP1, DYNC2H1, MESP2, TXNL4A, EFTUD2, EBP, ACAN, EFNB1, MEGF8, EIF2AK3, AGPS, ENPP1, EP300, ERF, EVC, EXT1, BHLHA9, EXT2, FBLN1, FBN1, FBN2, FGD1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FMN1, GALNT3, GDF3, GDF5, GDF6, GHSR, GLI3, ALPL, GPC3, GPC6, ALX3, ALX4, RIPK4, HOXA11, HOXA13, HOXD13, HPGD, HSPG2, RBPJ, IHH, INPPL1, IRF6, KIF22, LBR, COG1, LFNG, LIFR, LMX1B, LRP4, LRP5, MATN3, MEOX1, MGP, MMP13, MMP2, MMP9, ARSE, MSX2, MYCN, NEK1, NFIX, NOG, NPPC, NPR2, ORC1, ORC4, PAPSS2, PCYT1A, PDE4D, SERPINF1, PEX7, PHEX, PITX1, PLOD1, PLOD2, PLS3, PPIB, B4GALT7, PRKAR1A, NKX3-2, PTDSS1, PTHLH, PTH1R, RAD21, RASGRP2, RECQL4 Specificity 1 % Genes 100 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel. By CeGaT GmbH (Germany). ROR2, BMP2, BMPR1B, WNT10B, WNT7A, LMBR1, TP63, TRPV4, BHLHA9, FBLN1, FGF16, GDF5, GJA1, GLI3, HOXA11, HOXD13, IHH, LRP4, NOG, PTHLH Specificity 5 % Genes 100 %
Limb Malformation: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States). ROR2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, HDAC4, SALL4, TP63, CHSY1, CDH3, GREM1 , (...) View the complete list with 26 more genes Panel complete gene list ROR2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, HDAC4, SALL4, TP63, CHSY1, CDH3, GREM1, PIGV, ESCO2, NIPBL, CEP290, RPGRIP1L, ARHGAP31, CC2D2A, KIF7, FBLN1, FGF10, FGFR2, FGFR3, FMN1, GDF5, GLI3, GNAS, HOXD13, IHH, LRP4, MGP, MKS1, MYCN, NOG, PITX1, PTHLH, RECQL4 Specificity 3 % Genes 100 %
Skeletal Dysplasia: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States). ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SHOX, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO , (...) View the complete list with 141 more genes Panel complete gene list ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SHOX, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP11, TRPS1, ACP5, TYROBP, CCN6, WNT3, WNT5A, WNT7A, ZMPSTE24, LMBR1, IFT122, CA2, SOST, HDAC4, CASR, SERPINH1, ANKH, SALL4, TP63, PCNT, IFITM5, CHSY1, SP7, CDH3, TREM2, CDKN1C, B3GALT6, TRPV4, FKBP10, ATP6V0A2, P3H1, CHST3, CANT1, EVC2, GREM1, CLCN5, CLCN7, SLC34A3, SULF1, SLC35D1, SLC39A13, CUL7, ICK, DYM, OSTM1, COL10A1, COL11A1, COL11A2, COL1A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, FERMT3, CRTAP, CHST14, TCTN3, TMEM216, CTSK, GORAB, PIGV, ESCO2, DDR2, ANO5, TMEM67, DHCR24, NIPBL, LEMD3, CEP290, IFT140, OBSL1, DLX3, RPGRIP1L, ARHGAP31, SH3PXD2B, WDR35, CC2D2A, IFT80, DMP1, DYNC2H1, KIF7, EIF2AK3, ENPP1, EVC, EXT1, EXT2, FBLN1, FBN1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FMN1, GALNT3, GDF5, GLI3, ALPL, GNAS, GPC6, HOXD13, HPGD, HSPG2, IHH, KIF22, MAFB, LIFR, LMNA, LRP4, LRP5, MATN3, MGP, MKS1, MMP13, MMP2, MMP9, MYCN, NEK1, NOG, NOTCH2, NPR2, PAPSS2, PHEX, PITX1, PLOD2, PPIB, B4GALT7, PRKAR1A, NKX3-2, PTHLH, PTH1R, PTPN11, PYCR1, RASGRP2, RECQL4 Specificity 1 % Genes 100 %
Skeletal Dysplasias NGS panel. By Fulgent Genetics Fulgent Genetics (United States). ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO, TNFRSF11A , (...) View the complete list with 139 more genes Panel complete gene list ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP11, TRPS1, ACP5, TYROBP, CCN6, WNT3, WNT5A, WNT7A, ZMPSTE24, LMBR1, IFT122, CA2, SOST, HDAC4, CASR, SERPINH1, ANKH, SALL4, TP63, PCNT, IFITM5, CHSY1, SP7, CDH3, TREM2, CDKN1C, B3GALT6, TRPV4, FKBP10, ATP6V0A2, P3H1, CHST3, CANT1, EVC2, GREM1, CLCN5, CLCN7, SLC34A3, SULF1, SLC35D1, SLC39A13, CUL7, ICK, DYM, OSTM1, COL10A1, COL11A1, COL11A2, COL1A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, FERMT3, CRTAP, CHST14, TMEM216, CTSK, GORAB, PIGV, ESCO2, DDR2, ANO5, TMEM67, DHCR24, NIPBL, LEMD3, CEP290, IFT140, OBSL1, DLX3, RPGRIP1L, ARHGAP31, SH3PXD2B, WDR35, CC2D2A, IFT80, DMP1, DYNC2H1, KIF7, EIF2AK3, ENPP1, EVC, EXT1, EXT2, FBLN1, FBN1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FMN1, GALNT3, GDF5, GLI3, ALPL, GNAS, GPC6, HOXD13, HPGD, HSPG2, IHH, KIF22, MAFB, LIFR, LMNA, LRP4, LRP5, MATN3, MGP, MKS1, MMP13, MMP2, MMP9, MYCN, NEK1, NOG, NOTCH2, NPR2, PAPSS2, PHEX, PITX1, PLOD2, PPIB, B4GALT7, PRKAR1A, NKX3-2, PTHLH, PTH1R, PTPN11, PYCR1, RASGRP2, RECQL4 Specificity 1 % Genes 100 %
FBLN1. By Fulgent Genetics Fulgent Genetics (United States). FBLN1 Specificity 100 % Genes 100 %
SYNDACTYLY TYPE 2 (SINPOLYDACTYLY). By Laboratorio de Genetica Clinica SL (Spain). FBLN1, HOXD13 Specificity 50 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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