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GENATLAS PHENOTYPE
last update : 05-06-2018
Symbol WZS
Location 6p21.32
Name Weissenbacher-Zweymuller syndrome
Other name(s)
  • Pierre Robin syndrome with fetal chondrodysplasia
  • otospondylomegaepiphyseal dysplasia, autosomal dominant
  • Corresponding gene COL11A2
    Other symbol(s) OSMEDA
    Main clinical features
  • with neonatal micrognathia and rhizomelic chondrodysplasia, with dumbbell-shaped femora and humeri, regression of bone changes and normal growth in later years and radiologically there are also vertebral coronal clefts
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Remark(s)