Desbuquois dysplasia

Desbuquois dysplasia is an osteochondrodysplasia, a type of disorder that affects bone and cartilage development. It is characterized by severe short stature with small limbs (micromelic dwarfism), differences in facial features, and joint laxity that often leads to multiple dislocations. People with this condition also show changes in the spine and long bones, including vertebral and metaphyseal abnormalities along with advanced carpotarsal ossification, which refers to early bone formation in the wrists and ankles. There are two main forms of this condition. The first type shows characteristic hand anomalies, while the second does not. In addition, a variant known as the Kim variant has been described, which includes short stature with significant hand anomalies and milder facial features. This overview is based on clinical descriptions and known skeletal features of the condition.

Common signs and symptoms of Desbuquois dysplasia include very short stature with smaller arms and legs, unusual facial features, joint laxity leading to multiple dislocations, and bone abnormalities such as changes in the vertebrae, long bones, and early bone formation in the wrists and ankles. The condition may also involve hand anomalies in some types, with the Kim variant showing more pronounced hand differences.

Information about causes is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.