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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-12-2013
Symbol SRPS3B
Location 9q34.11
Name short rib-polydactyly syndrome type III B
Other name(s)
  • Verma-Naumoff syndrome
  • Jeune asphyxiating thoracic dystrophy
  • Short-rib thoracic dysplasia 11
  • Corresponding gene WDR34
    Other symbol(s) SRTD11
    Main clinical features
  • perinatal death of asphyxia due to thoracic narrowing chondrodysplasia,
  • often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency, post axial polydactyly and shortened long bones with some metaphyseal spikes
  • radiographically, shortened horizontal ribs, a trident pelvis, and metaphyseal spikes at the lateral ends of the femora
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease