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GENATLAS PHENOTYPE
last update : 15-04-2015
Symbol RBNS
Location 9q22.31
Name Robinow syndrome
Other name(s)
  • costovertebral segmentation defect with mesomelia
  • covesdem syndrome
    • Corresponding gene ROR2
    Other symbol(s) RBNW1, RS, RRS
    Main clinical features
  • dwarfing syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia and "fetal facies"
  • short stature, mesomelic and acromelic brachymelia, thick abnormally modelled radius and ulna, characteristic face with hypertelorism, wide palpebral fissures, broad based nose and everted nares, large mouth, gum hypertrophy with irregular and crowded teeth, costovertebral anomalies and micropenis in males
  • associated with partial insensitivity of Leydig cells to HCG
    • Genetic determination autosomal recessive
    Prevalence over 100 cases reported
    Function/system disorder osteo-articular
    multisystem/generalized
    Type malformation
    Gene product
    Name orphan receptor tyrosine kinase, ROR2 truncations, either extracellular or TK domain, intracellular inactivation of TK
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein mutant retained within the endoplasmic reticulum, misfolded and degraded
    nonsense   truncated protein  
    missense   abnormal protein/loss of function  
    Remark(s) it is not clear if the autosomal dominant forms of RS is caused by mutations in ROR2 or in a different gene