osteochondrodysplasia Desbuquois dysplasia https://www.malacards.org/card/desbuquois_dysplasia OMIMPS:251450 DBQD DOID:0060462 desbuquois syndrome GARD:0001818 Orphanet:1425 Desbuquois dysplasia SCTID:254099008 MEDGEN:98479 Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with 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. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies. NCIT:C124056 ICD9:756.9 MONDO:0015426 micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification UMLS:C0432242 obsolete primary bone dysplasia with multiple joint dislocations developmental defect during embryogenesis