Desbuquois syndrome

Desbuquois syndrome describes an autosomal recessive inherited skeletal dysplasia. Characteristic is a prenatal onset, mesomel and rhizomelic shortened limbs, hyperextensible joints, typical facial dysmorphism and kyphoscoliosis. 

There are two types of Desbuquois syndrome. In type 1, malformations of the hands and respiratory problems are charasteristic as an addition to the other characterisic symptoms. This type is triggered by mutations in the CANT1 gene. 

In type 2, no malformations of the hands occur. In some cases this type is caused by mutations in the XYLT1 gene. 

The syndrome is often fatal.