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GENATLAS PHENOTYPE
last update : 25-06-2010
Symbol DCS
Location Xp22.33
Name dyschondrosteosis, Leri-Weill syndrome
Other name(s) Leri-Weill Dyschondrosteosis
Corresponding gene SHOX
Other symbol(s) LWD, LWS
Main clinical features
  • dominant form of mesomelic dysplasia in pseudoautosomal region
  • characterized by short stature (2 SD below normal) with short forelimbs and distal radio-ulnar deformity on forearm x rays (Madelung deformity),
  • maybe associated with chondrodysplasia punctata, ichthyosis and mental retardation in a putative contiguous gene syndrome, and in any cases of isolated Madelung deformity
    • Genetic determination sex linked
    Related entries see also GCX and MMDL
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name short stature homeo box containing gene (SHOX)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   haploinsufficiency disruption of DNA binding or of protein stability
    deletion      
      deletion   ~90kb to >2.5 Mb deletions encompassing SHOX in 34p100 of LWD patients,most patients share a distinct breakpoint kb proximal to SHOX
    deletion     deletions of regulatory elements downstream of SHOX
    Remark(s)
    Genotype/Phenotype correlations SHOX upstream deletions may cause a phenotype that differs from the one observed in LWD (Durand 2010)