Desbuquois syndrome

Disease Overview

Desbuquois syndrome (DBQD) is a rare type of osteochondrodysplasia (a disorder of the development of bones and cartilage). Characteristics may vary in severity and can include short stature with short extremities, severe joint laxity with dislocation, osteopenia, kyphoscoliosis, distinctive facial characteristics and other abnormalities.[3618]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 been described in 7 patients originating from Korea and Japan, and is characterized by short stature, joint and minor facial anomalies, together with significant hand anomalies with short bones in the hands, long fingers and advanced bone age. DBQD type 1 and Kim variant are caused by mutations in the gene CANT1.  Some cases of DBQD type 2 are caused by mutations in the gene XYLT1 but in other cases the cause is unknown.[9637] It is inherited in an autosomal recessive manner.[3619] Type 1 can be associated with severe respiratory problems. Treatment for the condition is geared towards the signs and symptoms present in each individual.[3618]

Synonyms

• DBQD
• Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
• Desbuquois dysplasia