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GENATLAS PHENOTYPE
last update : 26-08-2013
Symbol SMCD2
Location 4p31.1
Name Smith-McCort dysplasia 2
Corresponding gene RAB33B
Main clinical features
  • osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests
  • mental retardation absent ( different of Dyggve-Melchior-Clausen syndrome)
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Remark(s)