Multiple Synostoses Syndrome 2; Syns2

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 Multiple Synostoses Syndrome 2; Syns2

GDF5
GDF5OS

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Multiple Synostoses Syndrome 2; Syns2

Brachydactyly
Talipes equinovarus
Wide nose
Vertebral fusion
Tarsal synostosis
Carpal synostosis
Humeroradial synostosis
Proximal symphalangism
Finger symphalangism

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.

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.

Multiple Synostoses Syndrome 2; Syns2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GDF5. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). GDF5 Specificity 100 % Genes 50 %
Chondrodysplasia, Grebe type (sequence analysis of GDF5 gene). By CGC Genetics (Portugal). GDF5 Specificity 100 % Genes 50 %
Acromesomelic dysplasia, Hunter-Thompson type (sequence analysis of GDF5 gene). By CGC Genetics (Portugal). GDF5 Specificity 100 % Genes 50 %
Chondrodysplasia, Grebe type (deletion/duplication analysis of GDF5 gene). By CGC Genetics (Portugal). GDF5 Specificity 100 % Genes 50 %
Chondrodysplasia, Grebe type (deletion/duplication analysis of GDF5 gene). By CGC Genetics (Portugal). GDF5 Specificity 100 % Genes 50 %
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 50 %
GDF5-related Disorders via GDF5 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). GDF5 Specificity 100 % Genes 50 %
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 50 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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