1. Diseases
  2. Saethre-Chotzen syndrome

Saethre-Chotzen syndrome

Disease Export to PDF
Name:
Saethre-Chotzen syndrome
Description:
A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations.
ORPHAcode:
794
Synonyms:
ACS3
Acrocephalosyndactyly type 3
SCS
XREF(s):
Orphanet
OMIM
ICD-10
OMIM
Analyte(s):
FGFR3
FGFR2
TWIST1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Craniosynostosis (32 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ASXL1 95.00 0 NM_015338.6/ interpretable range CS1>95%
    COLEC10 95.00 0 NM_006438.5/ interpretable range CS1>95%
    COLEC11 95.00 0 NM_024027.5/ interpretable range CS1>95%
    CYP26B1 95.00 0 NM_019885.4/ interpretable range CS1>95%
    EFNB1 95.00 0 NM_004429.5/ interpretable range CS1>95%
    ERF 95.00 0 NM_006494.4/ interpretable range CS1>95%
    FAM111A 95.00 0 NM_022074.4/ interpretable range CS1>95%
    FGFR1 95.00 0 NM_023110.3/ interpretable range CS1>95%
    FGFR2 95.00 0 NM_000141.5/ interpretable range CS1>95%
    FGFR3 95.00 0 NM_000142.5/ interpretable range CS1>95%
    HNRNPK 95.00 0 NM_002140.5/ interpretable range CS1>95%
    IL11RA 95.00 0 NM_001142784.3/ interpretable range CS1>95%
    IL6ST 95.00 0 NM_002184.4/ interpretable range CS1>95%
    LTBP1 95.00 0 NM_206943.4/ interpretable range CS1>95%
    MASP1 95.00 0 NM_139125.4/ interpretable range CS1>95%
    MEGF8 95.00 0 NM_001410.3/ interpretable range CS1>95%
    MSX2 95.00 0 NM_002449.5/ interpretable range CS1>95%
    POR 95.00 0 NM_001367562.3/ interpretable range CS1>95%
    RAB23 95.00 0 RAB23 NM_183227.3/ interpretable range CS1>95%
    RECQL4 95.00 0 NM_004260.4/ interpretable range CS1>95%
    RUNX2 95.00 0 NM_001024630.4/ interpretable range CS1>95%
    SIX1 95.00 0 NM_005982.4/ interpretable range CS1>95%
    SKI 95.00 0 SKI NM_003036.4/ interpretable range CS1>95%
    SLC25A24 95.00 0 NM_013386.5/ interpretable range CS1>95%
    SMAD6 95.00 0 NM_005585.5/ interpretable range CS1>95%
    SMO 95.00 0 NM_005631.5/ interpretable range CS1>95%
    TCF12 95.00 0 NM_207036.2/ interpretable range CS1>95%
    TFAP2B 95.00 0 NM_003221.4/ interpretable range CS1>95%
    TRAF7 95.00 0 NM_032271.3/ interpretable range CS1>95%
    TWIST1 95.00 0 NM_000474.4/ interpretable range CS1>95%
    ZIC1 95.00 0 NM_003412.4/ interpretable range CS1>95%
    ZNF462 95.00 0 NM_021224.6/ interpretable range CS1>95%
  • Growth retardation/short stature (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACAN 98.48 1
    ALPL 99.97 1
    ANKRD11 100.00 1
    ARCN1 99.91 1
    ARID1A 98.84 1
    ARID1B 97.80 1
    ARID2 99.96 1
    BMP2 99.97 1
    BRAF 98.17 1
    BTK 99.34 1
    CBL 99.89 1
    CCDC8 100.00 1
    CDC45 100.00 1
    CDC6 99.94 1
    CDKN1C 97.19 1
    CDT1 94.33 1
    CREBBP 99.91 1
    CUL7 100.00 1
    DHCR7 100.00 1
    DVL1 100.00 1
    EP300 99.96 1
    FGD1 98.85 1
    FGFR3 99.67 1
    FLNA 99.89 1
    GH1 100.00 1
    GHR 99.78 1
    GHRHR 99.79 1
    GHSR 99.99 1
    GMNN 99.70 1
    HESX1 99.81 1
    HMGA2 72.70 1
    HRAS 100.00 1
    IGF1 99.96 1
    IGF1R 99.98 1
    IGF2 100.00 1
    IGFALS 100.00 1
    IHH 99.93 1
    KDM6A 98.95 1
    KMT2A 99.18 1
    KMT2D 99.98 1
    KRAS 99.92 1
    LZTR1 99.99 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MAPK1 99.56 1
    MRAS 100.00 1
    NBAS 99.97 1
    NPR2 99.97 1
    NRAS 99.45 1
    OBSL1 99.32 1
    ORC1 99.96 1
    ORC4 99.90 1
    ORC6 99.91 1
    PAPPA2 99.91 1
    PIK3R1 99.80 1
    PLAG1 99.90 1
    POC1A 99.98 1
    POU1F1 99.92 1
    PPP1CB 99.99 1
    PTPN11 99.91 1
    RAF1 99.96 1
    RASA2 99.59 1
    RIT1 99.96 1
    RNPC3 99.76 1
    ROR2 99.24 1
    RRAS2 99.60 1
    SHOC2 99.81 1
    SHOX 94.81 1
    SMARCA4 99.98 1
    SMARCB1 100.00 1
    SOS1 99.81 1
    SOS2 99.70 1
    SOX3 97.93 1
    SPRED2 99.96 1
    SRCAP 99.97 1
    STAT5B 99.94 1
    TOP3A 99.95 1
    TRIM37 99.81 1
    WNT5A 99.96 1
    YY1 99.63 1
  • Short Stature (46 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACAN 90.00 1 NM_001369268.1
    ANKRD11 100.00 1 NM_013275.6
    BRAF 100.00 1 NM_001354609.2
    BTK 100.00 1 NM_000061.3
    CBL 100.00 1 NM_005188.4
    CCDC8 100.00 1 NM_032040.5
    CREBBP 100.00 1 NM_004380.3
    CUL7 100.00 1 NM_014780.5
    DHCR7 100.00 1 NM_001360.3
    DVL1 100.00 1 NM_001330311.2
    EP300 100.00 1 NM_001429.4
    FGD1 100.00 1 NM_004463.3
    FGFR3 100.00 1 NM_001163213.1
    GH1 100.00 1 NM_000515.5
    GHR 100.00 1 NM_000163.5
    GHRHR 100.00 1 NM_000823.4
    GHSR 100.00 1 NM_198407.2
    HRAS 100.00 1 NM_005343.4
    IGF1 100.00 1 NM_000618.5
    IGF1R 100.00 1 NM_000875.5
    IGF2 100.00 1 NM_000612.6
    IGFALS 100.00 1 NM_004970.3
    KDM6A 100.00 1 NM_001291415.2
    KMT2D 100.00 1 NM_003482.3
    KRAS 100.00 1 NM_033360.4
    NPPC 100.00 1 NM_024409.4
    NPR2 100.00 1 NM_003995.3
    NPR3 100.00 1 NM_001204375.2
    NRAS 100.00 1 NM_002524.5
    OBSL1 100.00 1 NM_015311.3
    PIK3R1 100.00 1 NM_181523.3
    POU1F1 100.00 1 NM_000306.4
    PTPN11 100.00 1 NM_002834.5
    RAF1 100.00 1 NM_001354689.3
    RASA2 100.00 1 NM_006506.5
    RIT1 100.00 1 NM_006912.6
    ROR2 100.00 1 NM_004560.4
    RPS6KA3 100.00 1 NM_004586.3
    SHOC2 100.00 1 NM_007373.4
    SHOX 100.00 1 NM_000451.3
    SOS1 100.00 1 NM_005633.3
    SOX3 100.00 1 NM_005634.2
    SRCAP 100.00 1 NM_006662.3
    STAT5B 100.00 1 NM_012448.4
    TRIM37 100.00 1 NM_015294.6
    WNT5A 100.00 1 NM_003392.4