E' caratterizzata da agenesia della fibula e brachidattilia.
E' trasmessa con carattere autosomico recessivo legata a mutazione del gene GDF5.
Bibliografia
Ahmad, M., Abbas, H., Wahab, A., Haque, S. Fibular hypoplasia and complex brachydactyly (Du Pan syndrome) in an inbred Pakistani kindred. Am. J. Med. Genet. 36: 292-296, 1990.
Douzgou, S., Lehmann, K., Mingarelli, R., Mundlos, S., Dallapiccola, B. Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. Am. J. Med. Genet. 146A: 2116-2121, 2008.
Kohn, G., Veder, M., Schoenfeld, A., El Shawwa, R. New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence. Am. J. Med. Genet. 34: 535-540, 1989.