Desbuquois Dysplasia

**Semantic type:** Disease or Syndrome

**Definition:** A rare osteochondrodysplasia characterized by short stature, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities, and advanced carpotarsal ossification. Two forms have been identified: type 1 caused by mutation in the gene CANT1 and type 2 caused by mutations in the gene XYLT1.

**Synonyms:** - DBQD