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References OMIM Gene GeneReviews HGMD HGNC
last update : 22-2-2012
Symbol GFS2
Location 2q35
Name gloomy face syndrome 2
Other name(s)
  • 3M syndrome 2
  • three M syndrome
  • Le Merrer syndrome
  • dolichospondylic dysplasia
  • Corresponding gene OBSL1
    Other symbol(s) 3M2
    Main clinical features
  • low birth weight dwarfism, narrow facies, triangular shaped face, prominent ears, fleshy tipped anteverted nares, and clinodactyly, grooved lower anterior thorax, no mental retardation
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Remark(s) mutation in the first 6 exons (Hanson 2009)