Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. (Orphanet Rare Disease Ontology, Orphanet_1425)
9 genes associated with the disease Desbuquois Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
