Type of disease: Rare conditions
Desbuquois syndrome 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, joint laxity, kyphoscoliosis, distinctive facial characteristics and other abnormalities. There is evidence that in some individuals (those with hand abnormalities only), it is caused by mutations in the CANT1 gene. It is inherited in an autosomal recessive manner. Treatment for the condition is geared towards the individual signs and symptoms present in each individual. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.