Desbuquois syndrome

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Desbuquois syndrome

Synonyms: DBQD | Desbuquois dysplasia

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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