Filippi Syndrome

Table of contents:

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

Description

Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

Genes related to Filippi Syndrome

CKAP2L

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Clinical Features

Top most frequent phenotypes and symptoms related to Filippi Syndrome

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia
Microcephaly
Growth delay
Hypertelorism
Failure to thrive
Micrognathia

And another 92 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

Filippi Syndrome Is also known as scott craniodigital syndrome with mental retardation, syndactyly, type i, with microcephaly and mental retardation, type 1 syndactyly-microcephaly-intellectual disability syndrome.

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.

Filippi Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mental retardation - different panels. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...) View the complete list with 845 more genes Panel complete gene list RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SKI, SLC12A6, SLC16A2, SLC17A5, SLC1A4, BRAF, SLC25A1, SLC25A15, SLC25A16, SLC2A1, SLC31A1, SLC35A1, SLC35A2, SLC35A3, SLC4A4, SLC6A1, SLC6A3, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMPD1, SMS, SNAP29, SIK1, SOS1, SOS2, SOX10, SOX2, SOX3, SOX5, SPG11, SPTAN1, SSR4, STIM1, PLK4, CDKL5, STXBP1, SUOX, SURF1, BUB1B, SYN1, SYNGAP1, SYP, TAF1, TAF2, TAT, TBCE, TBR1, TCF12, TCF20, TCF4, TGFBR1, TGFBR2, TGIF1, TH, THRB, ACO2, TIMM8A, NKX2-1, TSPAN7, ACOX1, MED12, TPI1, TREX1, TRIO, TRIP12, TSC1, TSC2, CEP41, TUBA8, TUBB2A, TUBG1, UBE2A, UBE3A, USP9X, KDM6A, VLDLR, VRK1, WNT1, WWOX, XPA, ZIC2, RNF113A, KAT6A, SCAPER, ZNF711, ZNF81, ACTB, ARL6, FTSJ1, HDAC8, KIF4A, MCOLN1, NSDHL, RLIM, UBE3B, USP27X, ZBTB20, ERLIN2, FBXL4, CTCF, CA2, CA5A, SLC12A5, CA8, CNTNAP2, CACNA1C, CACNA1G, CACNA2D2, HDAC4, FMN2, CCDC78, NSD1, CAD, RAB18, AUTS2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, SCYL1, ACTG1, ELOVL4, TMEM237, MRPS22, ARHGEF9, DEAF1, CAPN10, COG5, ZEB2, PIGT, PPP1R15B, CASK, SNX14, CASP2, MICU1, CBL, SHOC2, MBTPS2, GPHN, ANKH, CBS, PUS1, JAM3, SETBP1, ALG9, LRPPRC, GEMIN4, ADNP, CCNA2, BSCL2, KMT2B, ARFGEF2, PANK2, NDUFAF5, PLCB1, SAMHD1, APTX, MPLKIP, PCNT, SFXN4, TBC1D20, MGME1, DNAJC5, UPB1, TRIM32, NLRP3, RAB39B, FBXO31, TUBGCP4, BCAP31, ZNF423, UBR1, COQ8A, FIG4, HAX1, STAMBP, ZMYND11, SRCAP, CLP1, RAB3GAP1, EXOSC2, ACVR1, CDON, RAB3GAP2, COLEC11, CENPJ, WAC, BRWD3, GMNN, GJC2, CDH15, KAT6B, NDE1, PORCN, ACY1, CDK5, PDSS1, CDK6, AFF4, PGAP2, EXOSC3, CEP83, FKRP, ARID2, ARID1B, ARX, GPT2, SPATA5, TUBGCP6, PHF6, TMCO1, ELP2, PECR, ALG1, ATP6AP2, ASXL1, PRIMA1, SETD2, DEPDC5, ZDHHC9, ATP6V0A2, SPART, RNASEH2A, IER3IP1, CENPE, SLC39A6, COG4, COG6, COG7, COG8, IFT27, RTTN, PMPCA, CDK5RAP2, ASCC3, NAA10, BBS7, POGZ, KCNT1, MMAA, IFIH1, GBA2, ASPM, THOC2, NALCN, POMGNT1, CHD2, FRAS1, DOCK7, ALG12, CHKB, COQ4, CNKSR1, CNKSR2, POMT2, ISCA2, SLC25A22, TECPR2, KIAA0586, CCDC88C, AARS, SNX27, TTC8, CHD8, SLC35C1, B3GLCT, CLCN4, SPRED1, NUBPL, CHAMP1, SMOC1, UBR7, FRY, NDUFA11, UPF3B, MBD5, APOPT1, L2HGDH, ZC3H14, CYP2U1, CHD7, CLIC2, PHF8, TPP1, CLN3, CLN5, ZFYVE26, TUBA1A, CLN6, TUBB4A, CLN8, BCOR, HACE1, SERAC1, FARS2, TBC1D7, RNF125, GTF2H5, RMND1, ANKRD11, DYM, PDHX, ABHD5, INPP5E, ACAD9, AHI1, SATB2, RNASET2, BRAT1, VPS13B, RBM28, COL18A1, KCTD7, COL4A1, COL4A2, COL4A3BP, ADAR, COX10, COX15, GMPPA, GMPPB, MED13L, PEX26, PDSS2, ALG3, SLC13A5, ALG6, ALG2, ALG8, PNPT1, PIGO, ETHE1, ACBD6, CRADD, DOLK, KIF1BP, CREBBP, DHTKD1, PGAP3, MED23, MED17, NDUFA12, APC2, RNASEH2C, PTRH2, POC1A, WDR62, TCTN3, MMACHC, NECAP1, KANSL1, FAM126A, SIL1, EHMT1, FTO, SMC3, RABL6, MFF, MOGS, CEP104, LARP7, VPS37A, ZC4H2, CTDP1, TMEM216, WDR45B, PRMT9, CTNNB1, ADAT3, MMADHC, COQ2, AHDC1, ZCCHC8, CTSD, CTSF, DDX59, KATNAL2, RAB40AL, ARL13B, TANGO2, FRMD4A, ANO10, CCDC88A, DARS2, CUL4B, PRMT7, SETD5, TTC21B, OFD1, RNASEH2B, ADK, PGAP1, LAS1L, TRAPPC11, TCTN2, CPLANE1, SRD5A3, CEP63, MFSD2A, POMGNT2, WDR73, GON4L, TRMT1, PIGG, NSUN2, KRBOX4, PIGV, TCTN1, TMEM135, CSPP1, FAR1, TM4SF20, TTI2, POMK, NARS2, BBS10, HEPACAM, PTCHD1, HGSNAT, UNC80, WDR81, BBS12, DAG1, DARS, C12orf65, CKAP2L, HIKESHI, TMEM138, DBT, METTL23, PARP1, DCX, DDC, ESCO2, DDOST, ACSF3, DDX3X, WDPCP, BBIP1, CCDC28B, CCDC115, ADRA2B, D2HGDH, TMEM67, TRMT10A, MFSD8, DHCR24, B3GALNT2, DHCR7, DHFR, CYB5R3, DIAPH1, MED25, NIPBL, MAGT1, DKC1, CCDC22, WDR45, EMC1, DLD, WASHC5, FRMPD4, SETD1A, KDM6B, DLG3, CEP290, SZT2, ZBTB40, IQSEC2, KIAA0556, KDM1A, CEP135, ADSL, DDHD2, RPGRIP1L, TBC1D24, SHROOM4, CC2D2A, SOBP, DMD, DIP2B, CEP152, ZSWIM6, DMPK, EPG5, KLHL15, ASXL3, ZNF526, EARS2, RSPRY1, CCBE1, NEXMIF, ROGDI, C12orf57, TBL1XR1, DYNC1H1, DNM1, DNM1L, DNMT3A, DNMT3B, DCPS, DPAGT1, BBS9, DPH1, PACS1, DPM1, DPM2, DPM3, POLR3A, DPP6, DPYD, CRBN, ATP13A2, RFT1, CC2D1A, TUSC3, PYCR2, POLR3B, IFT172, KIF7, PRRT2, DNAJC19, STT3B, STRA6, CLPB, TMEM165, GATAD2B, TUBB2B, TRAPPC9, POC1B, EFTUD2, ALG13, HUWE1, DYRK1A, LINS1, SLC6A17, AGA, EEF1A2, EEF1B2, MEGF8, ALG11, AGPAT2, EIF2AK3, EIF2S3, EMX2, ENTPD1, EP300, AHCY, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EZH2, ACSL4, FANCD2, FASN, AK1, FKTN, FGD1, FGFR1, FGFR2, FGFR3, FH, TMEM231, ISPD, FLNA, FMR1, AFF2, FOXG1, FOXP1, AKT3, MTOR, PET100, FUCA1, ALDH3A2, GABRA1, ALDH5A1, GABRB3, GAD1, GALE, B4GALNT1, GALT, GAMT, GATM, GCH1, GCSH, GDI1, GFAP, GK, GLDC, GLI2, GLI3, GNAO1, GNAS, GNPAT, GNS, GPC3, GABBR2, ADGRG1, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, GSS, GTF2E2, GUSB, AMT, HIST3H3, HIST1H4B, HSD17B10, HCCS, HCFC1, HCN1, HERC2, HESX1, ANK3, HLCS, HMGB3, HNRNPK, HOXA1, HPD, HPRT1, HRAS, IDS, IDUA, IGF1, AP1S1, AP1S2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, IKBKG, IL1RAPL1, ABCC9, IMPA1, INPP4A, ABCD1, STT3A, ITPA, KATNB1, KCNA2, KCNB1, KCNH1, KCNJ11, KCNJ6, KCNK9, KCNQ2, KCNQ3, KIF2A, KIF5C, KIF11, KPTN, KRAS, L1CAM, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, COG1, LIG4, LRP2, LZTFL1, LZTR1, MAB21L2, SMAD4, MAF, MAG, ABCD4, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, ARHGEF6, MASP1, MAT1A, MCCC1, MCCC2, MCPH1, MECP2, MEF2C, MEIS2, MGAT2, MID1, MID2, MKKS, MKS1, KMT2D, MLYCD, MOCS1, MOCS2, MPDU1, MPDZ, MPI, ASAH1, MT-CO1, MT-CO2, MT-CO3, ASL, MT-ND5, MTR, MTRR, MT-TK, MT-TL1, MT-TS1, MT-TV, MMUT, ASNS, MVK, MYCN, ASPA, MYO5A, MYT1L, NAGA, NAGLU, NBN, NDP, NDST1, NDUFA1, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NF1, NFIX, NHS, PNP, NPHP1, NR2F1, NRAS, ATP1A2, NRXN1, ATP1A3, NT5C2, NTRK1, OCLN, OCRL, ATP2A2, OPHN1, ORC1, OTX2, ATP6V1B2, PAFAH1B1, PAK3, PAX6, PC, ATP7A, AIFM1, PDE4D, PDE6D, PDHA1, ATR, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX6, ATRX, PEX7, KIF1A, PGK1, AUH, PGM1, PGM3, PHGDH, PIGA, PIGN, PIK3CA, PIK3R1, PIK3R2, PLP1, PMM2, PNKP, POMT1, B4GALT1, PPOX, B4GALT7, PPP2R1A, PPP2R5D, PPT1, PQBP1, PRKCG, PRKRA, PRODH, PRPS1, PRSS12, SLC33A1, PTCH1, PTDSS1, PTEN, PTPN11, BBS1, BBS2, BBS4, BBS5, PURA, NECTIN1, PEX5, PYCR1, ALDH18A1, QARS, RAB27A, RAD21, RAF1, RAI1, RALGDS, BCKDHA, RARB, BCKDHB, RASA2, KDM5A, RBBP8, RELN Specificity 1 % Genes 100 %
CKAP2L. By Fulgent Genetics Fulgent Genetics (United States). CKAP2L 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

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