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Disease: Fibular hypoplasia and complex brachydactyly

  • Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia
  • Fibular hypoplasia and complex brachydactyly (Du Pan syndrome) in an inbred Pakistani kindred
  • Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)
  • Santos syndrome is caused by mutation in the WNT7A gene
  • The surgical management of the upper extremity anomalies associated with Du Pan syndrome
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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