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GENATLAS PHENOTYPE
last update : 7/09/2006
Symbol SHFM3
Location 10q24.3
Name split hand and foot malformation 3
Other name(s)
  • limb deficiencies, distal, with micrognathia
  • chromosome 10q24 duplication syndrome
    • Corresponding gene FBXW4
    Other symbol(s) SHFD3, DAC, DUP10Q24
    Main clinical features
  • with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals, in any cases agenesis of the radial ray, epiphyseal coning, and ectrodactyly, may be homolog to the murine dactylaplasia (Dac)
  • associated with micrognathia, hearing problems and renal hypoplasia in two individuals with 10q24 duplication
    • Genetic determination autosomal dominant
    genomic disorder
    Function/system disorder osteo-articular
    Type malformation
    Gene product
    Name dactylin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      duplication   0,5Mb tandem genomic duplication, familial or de novo
    Remark(s) ~30 percent of non-syndromic SHFM3-cases are associated with chromosome rearrangements
    Genotype/Phenotype correlations no correlations between clinical phenotypes and the five known SHFM loci.