Spondyloepimetaphyseal Dysplasia, GeneviÈve Type

Table of contents:

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

Description

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

Genes related to Spondyloepimetaphyseal Dysplasia, GeneviÈve Type

NANS

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Clinical Features

Top most frequent phenotypes and symptoms related to Spondyloepimetaphyseal Dysplasia, GeneviÈve Type

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia
Microcephaly
Ataxia
Nystagmus
Strabismus
Abnormal facial shape

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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

Spondyloepimetaphyseal Dysplasia, GeneviÈve Type Is also known as nans deficiency, semd, genevieve type, semdg, semd, geneviÈve 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.

Spondyloepimetaphyseal Dysplasia, GeneviÈve Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...) View the complete list with 33 more genes Panel complete gene list RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, COMP, TRAPPC2, IMPAD1, DDR2, RSPRY1, PAM16, ACAN, EIF2AK3, RNU4ATAC, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, INPPL1, KIF22, LIFR, MATN3, MMP13, MMP9, NEK1, NPR2, PAPSS2, PCYT1A, B3GAT3, LONP1, NKX3-2, PTH1R Specificity 2 % Genes 100 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel. By Connective Tissue Gene Tests (United States). RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...) View the complete list with 33 more genes Panel complete gene list RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, COMP, TRAPPC2, IMPAD1, DDR2, RSPRY1, PAM16, ACAN, EIF2AK3, RNU4ATAC, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, INPPL1, KIF22, LIFR, MATN3, MMP13, MMP9, NEK1, NPR2, PAPSS2, PCYT1A, B3GAT3, LONP1, NKX3-2, PTH1R Specificity 2 % Genes 100 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel. By Connective Tissue Gene Tests (United States). RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...) View the complete list with 33 more genes Panel complete gene list RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, COMP, TRAPPC2, IMPAD1, DDR2, RSPRY1, PAM16, ACAN, EIF2AK3, RNU4ATAC, FGFR3, FLNB, FN1, GPX4, HSPG2, IDUA, IHH, INPPL1, KIF22, LIFR, MATN3, MMP13, MMP9, NEK1, NPR2, PAPSS2, PCYT1A, B3GAT3, LONP1, NKX3-2, PTH1R Specificity 2 % Genes 100 %
NANS. By Fulgent Genetics Fulgent Genetics (United States). NANS Specificity 100 % Genes 100 %
Comprehensive Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics (Finland). RMRP, ROR2, BGN, RUNX2, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, TBX15, TBX3, TBX4, TBX6 , (...) View the complete list with 223 more genes Panel complete gene list RMRP, ROR2, BGN, RUNX2, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, TBX15, TBX3, TBX4, TBX6, TCF12, TCIRG1, TCOF1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP11, TRPS1, ACP5, TWIST1, TYROBP, VDR, CCN6, WNT1, WNT5A, ADAMTS10, HDAC8, NSDHL, IFT122, CA2, SOST, NSD1, ADAMTSL2, SNX10, CASR, SERPINH1, ANKH, XYLT1, SETBP1, TP63, PCNT, RAB33B, STAMBP, ACVR1, ADAMTS17, ORC6, CHSY1, SP7, CDC45, CDC6, KAT6B, CDKN1C, B3GALT6, TRPV4, FKBP10, WDR19, ATP6V0A2, DOCK6, NANS, P3H1, SBDS, CHST3, CANT1, EVC2, POLR1C, CLCN5, CLCN7, SLC34A3, VIPAS39, POLR1D, SLC35D1, SLC39A13, CUL7, ANKRD11, DYM, OSTM1, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, FAM20A, TRAPPC2, SLC29A3, CREBBP, CRTAP, BMPER, CHST14, TCTN3, CDT1, SMC3, FAM111A, FAM83H, CTSK, TMEM38B, TTC21B, IMPAD1, CYP27B1, CSPP1, AMER1, CKAP2L, ESCO2, DDR2, ANO5, WDR34, EOGT, DHCR24, NIPBL, LEMD3, IFT140, DLL3, OBSL1, DLL4, DLX3, ARHGAP31, SH3PXD2B, WDR35, IFT80, DMP1, DYNC2H1, MESP2, IFT43, IFT172, KIF7, DVL1, EFTUD2, EBP, ACAN, EFNB1, EIF2AK3, AGPS, ENAM, ENPP1, EP300, RNU4ATAC, EVC, EXT1, BHLHA9, EXT2, EXTL3, EZH2, FANCB, FANCC, FBN1, FBN2, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, AKT1, GALNT3, GDF5, GJA1, GLI3, ALPL, GNAS, GNPAT, GPC6, ALX3, ALX4, HOXA13, HOXD13, HSPG2, IDS, RBPJ, IHH, INPPL1, KIF22, MAFB, LBR, LIFR, LMNA, LMX1B, LRP4, LRP5, LTBP2, LTBP3, SMAD3, SMAD4, MATN3, MGP, ARSB, MMP13, MMP2, MMP9, ARSE, MSX2, MYCN, NEK1, NF1, NFIX, NOG, NOTCH2, NPR2, ORC1, ORC4, PAPSS2, PCYT1A, AIFM1, PDE4D, SERPINF1, PEX7, PGM3, PHEX, PIK3CA, PLOD2, PLS3, POR, B3GAT3, PPIB, B4GALT7, PRKAR1A, LONP1, NKX3-2, PTDSS1, PTHLH, PTH1R, PTPN11, PYCR1, RAD21, RECQL4 Specificity 1 % Genes 100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics (Finland). RIT1, RMRP, BCS1L, ROR2, BGN, RRAS, RUNX2, BMP1, BMP2, SEC24D, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, BRAF, SLC26A2, SMARCAL1, SMC1A , (...) View the complete list with 284 more genes Panel complete gene list RIT1, RMRP, BCS1L, ROR2, BGN, RRAS, RUNX2, BMP1, BMP2, SEC24D, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, BRAF, SLC26A2, SMARCAL1, SMC1A, SOS1, SOX2, SOX3, SOX9, SPARC, STAT5B, TBX15, TBX19, TBX3, TBX4, TBX6, TCF12, TCIRG1, TCOF1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP11, TRPS1, ACP5, TWIST1, TYROBP, VDR, CCN6, WNT1, WNT5A, XRCC4, ACTB, ADAMTS10, HDAC8, NSDHL, IFT122, CA2, SOST, NSD1, ACTG1, ADAMTSL2, SNX10, CASR, CBL, SHOC2, MBTPS2, SERPINH1, ANKH, XYLT1, SETBP1, TP63, PCNT, RAB33B, IFITM5, STAMBP, SRCAP, ACVR1, ADAMTS17, ORC6, CHSY1, CENPJ, SP7, CDC45, CDC6, KAT6B, CDKN1C, B3GALT6, TRPV4, FKBP10, WDR19, ATP6V0A2, RTTN, CREB3L1, DOCK6, NANS, P3H1, SBDS, CHST3, CANT1, EVC2, POLR1C, CLCN5, CLCN7, SLC34A3, VIPAS39, POLR1D, SLC35D1, SLC39A13, CUL7, ANKRD11, DYM, OSTM1, LHX4, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, FAM20A, TRAPPC2, SLC29A3, CREBBP, CRTAP, BMPER, CHST14, POC1A, TCTN3, CDT1, SMC3, FAM111A, FAM83H, LARP7, CTSK, CCDC8, TMEM38B, TTC21B, CEP63, IMPAD1, CYP27B1, CSPP1, AMER1, CKAP2L, ESCO2, DDR2, ANO5, WDR34, CCNQ, EOGT, DHCR24, DHCR7, NIPBL, LEMD3, IFT140, DLL3, OBSL1, DLL4, DLX3, ARHGAP31, SH3PXD2B, WDR35, IFT80, CEP152, DMP1, DYNC2H1, MESP2, IFT43, IFT172, KIF7, DVL1, EFTUD2, EBP, ACAN, EFNB1, EIF2AK3, AGPS, ENAM, ENPP1, EP300, RNU4ATAC, EVC, EXT1, BHLHA9, EXT2, EXTL3, EZH2, FANCB, FANCC, FBN1, FBN2, FGD1, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, AKT1, GALNT3, GDF5, GH1, GHR, GHRHR, GJA1, GLI2, GLI3, ALPL, GNAS, GNPAT, GPC6, ALX3, ALX4, HESX1, HOXA13, HOXD13, HRAS, HSPG2, IDS, IGF1, IGF1R, IGFALS, RBPJ, IHH, INPPL1, INSR, KIF22, KRAS, MAFB, LBR, LHX3, LIFR, LMNA, LMX1B, LRP4, LRP5, LTBP2, LTBP3, LZTR1, SMAD3, SMAD4, MAP2K1, MAP2K2, MATN3, MGP, ARSB, MMP13, MMP2, MMP9, ARSE, MSX2, TRIM37, MYCN, NEK1, NF1, NFIX, NOG, NOTCH2, NPR2, NRAS, ORC1, ORC4, OTX2, PAPSS2, PCYT1A, AIFM1, PDE4D, ATR, SERPINF1, PEX14, PEX7, PGM3, PHEX, PIK3CA, PITX2, PLOD2, PLS3, POR, POU1F1, B3GAT3, PPIB, B4GALT7, PRKAR1A, PROP1, LONP1, NKX3-2, PTDSS1, PTHLH, PTH1R, PTPN11, PEX19, PYCR1, RAD21, RAF1, RASA2, RBBP8, RECQL4 Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

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