Short-rib Thoracic Dysplasia 16 With Or Without Polydactyly; Srtd16

Table of contents:

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

Description

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Genes related to Short-rib Thoracic Dysplasia 16 With Or Without Polydactyly; Srtd16

IFT52

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Clinical Features

Top most frequent phenotypes and symptoms related to Short-rib Thoracic Dysplasia 16 With Or Without Polydactyly; Srtd16

Short stature
Low-set ears
Motor delay
Depressed nasal bridge
Brachydactyly
Wide nasal bridge
Respiratory insufficiency
Respiratory distress
Hypoplasia of the corpus callosum
Midface retrusion

And another 26 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.

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.

Short-rib Thoracic Dysplasia 16 With Or Without Polydactyly; Srtd16 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Skeletal dysplasia ciliopathy Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). CFAP410, IFT122, IFT52, WDR19, EVC2, KIAA0586, WDR60, DYNC2LI1, TTC21B, CEP120, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EVC, NEK1 Specificity 6 % Genes 100 %
Skeletal dysplasia ciliopathy NGS panel. By Connective Tissue Gene Tests (United States). CFAP410, IFT122, IFT52, WDR19, EVC2, KIAA0586, WDR60, DYNC2LI1, TTC21B, CEP120, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EVC, NEK1 Specificity 6 % Genes 100 %
Skeletal dysplasia ciliopathy Comprehensive panel. By Connective Tissue Gene Tests (United States). CFAP410, IFT122, IFT52, WDR19, EVC2, KIAA0586, WDR60, DYNC2LI1, TTC21B, CEP120, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EVC, NEK1 Specificity 6 % Genes 100 %
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel. By Connective Tissue Gene Tests (United States). RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2 , (...) View the complete list with 31 more genes Panel complete gene list RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, C2CD3, DYNC2LI1, TTC21B, CEP120, DDR2, WDR34, TCTEX1D2, IFT140, KIAA0753, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EBP, EVC, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, ARSE, NEK1, PEX7, NKX3-2, PTH1R Specificity 2 % Genes 100 %
Skeletal dysplasia and skeletal ciliopathy NGS panel. By Connective Tissue Gene Tests (United States). RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2 , (...) View the complete list with 31 more genes Panel complete gene list RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, C2CD3, DYNC2LI1, TTC21B, CEP120, DDR2, WDR34, TCTEX1D2, IFT140, KIAA0753, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EBP, EVC, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, ARSE, NEK1, PEX7, NKX3-2, PTH1R Specificity 2 % Genes 100 %
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2 , (...) View the complete list with 31 more genes Panel complete gene list RMRP, SLC26A2, SOX9, TRIP11, CFAP410, NSDHL, IFT122, IFT81, IFT52, TRPV4, WDR19, SBDS, EVC2, KIAA0586, SLC35D1, ICK, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, C2CD3, DYNC2LI1, TTC21B, CEP120, DDR2, WDR34, TCTEX1D2, IFT140, KIAA0753, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EBP, EVC, FGFR3, FLNB, ALPL, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, ARSE, NEK1, PEX7, NKX3-2, PTH1R Specificity 2 % Genes 100 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...) View the complete list with 386 more genes Panel complete gene list BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC22A5, SLC25A13, SLC26A1, SLC2A2, SLC34A1, SLC3A1, SLC4A4, SLC5A2, SLC7A7, SLC7A9, SLC9A3R1, SMARCAL1, SOX18, STX16, SUCLA2, SUCLG1, TALDO1, TBC1D1, TBX18, HNF1A, HNF1B, THBD, TNXB, TRPC6, TSC1, TSC2, CEP41, UMOD, UPK3A, UROD, VDR, VHL, VPS33B, WNT4, WT1, XDH, IKZF1, C3, ARL6, NEK8, NPHS2, SLC2A9, IFT122, ADAMTS13, CA2, CACNA1D, CACNA1H, ANLN, CD2AP, TMEM237, WNK1, WNK4, CASR, CBS, IFT52, SALL4, TRAP1, CD19, MAGED2, TRIM32, BSND, ACTN4, SCARB2, ZNF423, CDC73, CFHR4, CFHR3, CD81, DICER1, PLCE1, RRM2B, LRBA, CDC5L, KAT6B, XPO5, SARS2, TNFRSF13C, CDKN1B, INVS, CEP83, SLC22A12, TRPM6, SLC22A10, SOX17, DCDC2, TNFRSF13B, MOCOS, SEC61A1, WDR19, HPSE2, IFT27, NUP205, CRB2, GRIP1, BBS7, SLC36A2, MMAA, COQ8B, NPHP4, CHD1L, KIF14, FRAS1, KANK1, MMAB, BICC1, SLC41A1, SBDS, CHRM3, EIF2AK4, EVC2, KIAA0586, GREM1, TTC8, TMEM260, CLCN5, COQ6, CLCNKA, CLCNKB, SLC34A3, CLDN10, CLDN16, CLDN19, APOPT1, LRIG2, SERAC1, SEC63, RMND1, IFT74, INPP5E, AHI1, WDR60, COL4A1, COL4A3, COL4A4, COL4A5, COX10, COX6B1, PEX26, LMBRD1, PDSS2, SLC16A12, ALG8, CR2, FREM1, INF2, B9D1, TACO1, TCTN3, MMACHC, DYNC2LI1, CFHR5, KANK3, CEP104, TMEM216, HOGA1, CTNS, MMADHC, COQ2, ARHGAP24, FREM2, ARL13B, CUBN, CUL3, TTC21B, OFD1, TCTN2, CPLANE1, CYP11B1, CYP11B2, WDR73, CYP17A1, CYP24A1, SDHAF2, TMEM127, TCTN1, CSPP1, BBS10, BBS12, CEP120, ANKS6, TMEM138, KANK4, FLCN, SLC6A19, WDPCP, XPNPEP3, BBIP1, CCDC28B, WDR34, TMEM67, CCNQ, GLIS3, DGKE, DHCR7, B9D2, DIS3L2, MAGT1, IQCB1, NUP93, CEP290, DSTYK, KIAA0556, IFT140, FASTKD2, RPGRIP1L, FAN1, CEP164, TBC1D24, WDR35, CC2D2A, IFT80, KANK2, DMP1, GLIS2, MAPKBP1, DYNC2H1, IFT43, NUP107, BBS9, SLC26A3, IFT172, KIF7, STRA6, POC1B, SLC6A20, EGF, EHHADH, EIF2AK3, EMP2, ENPP1, AGTR1, AGTR2, COA5, AGXT, ETFA, ETFB, ETFDH, EVC, EYA1, FAH, FAT1, FGA, FGF20, FGF23, FH, TMEM231, FN1, ALAD, FXYD2, G6PC, GALNT3, GALT, GANAB, GATA3, GCDH, GCM2, ALMS1, GLA, GLB1, GNAS, GRHPR, GUCY2C, HADHA, HADHB, CFH, CFHR1, CFHR2, HMBS, HMGCL, HNF4A, HPRT1, HRAS, HSD11B2, ICOS, CFI, IL21, ITGA3, ITGA8, APOL1, JAG1, JAK3, ANOS1, KCNA1, KCNJ1, KCNJ10, APRT, KCNJ5, KCNMB1, AQP2, KL, KLHL3, MAFB, LAMA5, LAMB2, LAMC1, LCAT, LIFR, ARG1, LMX1B, LRP2, LRP4, LRP5, LYZ, LZTFL1, ARHGDIA, ABCD4, MAGEC1, MAX, CD46, MEFV, MEN1, MET, MKKS, MKS1, MPL, MS4A1, ASL, MUC1, MMUT, MVK, MYH9, ASS1, MYO1E, NEK1, NF1, NF2, NFKB1, NFKB2, NOTCH2, NPC1, NPHP1, NPHP3, NPHS1, NR3C2, NRIP1, OCRL, OTC, ATP6V1B1, PAX2, PAX6, PCBD1, PCCA, PCCB, ATP6V0A4, ATP7B, PDE3A, PDE6D, PEX1, PEX10, PEX11B, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGAM2, PGK1, AUH, PHEX, AVPR2, PIK3CA, PKD1, PKD2, PKHD1, PMM2, ACAT1, PRKAR1A, PRKCSH, PRPS1, PTH1R, BBS1, BBS2, PTPRO, BBS4, BBS5, PEX19, PEX2, PEX5, PYGM, RAD51C, RBM8A, REN, RET Specificity 1 % Genes 100 %
Skeletal Ciliopathies. By Asper Biogene Asper Biogene LLC (Estonia). IFT122, IFT52, WDR19, EVC2, KIAA0586, WDR60, COMP, TCTN3, DYNC2LI1, TTC21B, CSPP1, CEP120, WDR34, TCTEX1D2, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172 , (...) View the complete list with 3 more genes Panel complete gene list IFT122, IFT52, WDR19, EVC2, KIAA0586, WDR60, COMP, TCTN3, DYNC2LI1, TTC21B, CSPP1, CEP120, WDR34, TCTEX1D2, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EVC, FGFR3, NEK1 Specificity 5 % Genes 100 %

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Sources and references

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