Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (<i>GDF5</i>). Disease data Classification Malformation syndrome Synonyms Du Pan syndrome Zespół Du Pan ORPHA code 2639 OMIM code 228900 ICD10 code Q73.8 ICD11 code LD26.0 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl