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Desbuquois syndrome

^ http://www.orpha.net/ORDO/Orphanet_1425


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 (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.

Synonyms: Desbuquois dysplasia, DBQD

Term info

database cross reference
  • ICD-10:Q78.8 (Attributed)
  • OMIM:615777 (BTNT (broader term maps to a narrower term))
  • UMLS:C0432242 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:300881 (BTNT (broader term maps to a narrower term))
  • ICD-10:Q78.8 (NTBT (narrower term maps to a broader term))
  • MeSH:C535943 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:251450 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

MeSH:C535943, UMLS:C0432242, OMIM:300881, OMIM:615777, OMIM:251450, ICD-10:Q78.8

notation

ORPHA:1425