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GENATLAS PHENOTYPE
last update : 13-02-2018
Symbol RBNSOS
Location 1p36.33
Name Robinow Syndrome, osteosclerotic
Corresponding gene DVL1
Main clinical features
  • osteosclerosis associated with Robinow syndrome
  • distinctive facial appearance of midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as “fetal facies”
  • mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, brachydactyly, bifid thumbs, and segmentation defects
  • associated with atypical dramatic osteosclerosis
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type malformation
    Remark(s)
  • C terminus of DVL1 contains a number of proline-rich clusters that are deleted by the frameshift mutations leading to RBNSOS (PMID: 25817014))
  • . DVL-mediated Robinow syndrome might be a result of specific mutations that affect the phosphorylation of the C-terminal tails of DVL1 and DVL3 (PMID: 26924530))