Fibular aplasia-complex brachydactyly syndrome
Du Pan syndrome is an autosomal recessive disorder caused by mutations of the GDF5 gene. Its characterised by a rather complex brachydactyly and fibula aplasia.
Faiyaz-Ul-Haque M et. al. (2002) Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).[^]
Szczaluba K et. al. (2005) Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.[^]
Douzgou S et. al. (2008) Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.[^]
Ahmad M et. al. (1990) Fibular hypoplasia and complex brachydactyly (Du Pan syndrome) in an inbred Pakistani kindred.[^]
Kohn G et. al. (1989) New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence.[^]