Autosomal Dominant Spondylocostal Dysostosis

Table of contents:

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

Description

Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

Genes related to Autosomal Dominant Spondylocostal Dysostosis

TBX6

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Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Spondylocostal Dysostosis

Microcephaly
Scoliosis
Cleft palate
Wide nasal bridge
Intrauterine growth retardation
Macrocephaly
Anteverted nares
Short neck
Abnormality of cardiovascular system morphology
Recurrent respiratory infections

And another 12 symptoms. If you need more information about this disease we can help you.

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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

Autosomal Dominant Spondylocostal Dysostosis Is also known as autosomal dominant spondylocostal dysplasia.

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.

Autosomal Dominant Spondylocostal Dysostosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Spondylocostal dysostosis (NGS panel of 6 genes). By CGC Genetics (Portugal). TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG Specificity 17 % Genes 100 %
Spondylocostal dysostosis (NGS panel of 6 genes). By CGC Genetics (Portugal). TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG Specificity 17 % Genes 100 %
Spondylocostal Dysostosis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). TBX6, HES7, DLL3, MESP2, LFNG Specificity 20 % Genes 100 %
Spondylocostal Dysostosis via TBX6 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). TBX6 Specificity 100 % 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 %
Spondylocostal dysostosis Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG Specificity 17 % Genes 100 %
Spondylocostal dysostosis Comprehensive panel. By Connective Tissue Gene Tests (United States). TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG Specificity 17 % Genes 100 %
Spondylocostal dysostosis NGS panel. By Connective Tissue Gene Tests (United States). TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG Specificity 17 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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