Catalog

Desbuquois syndrome

No MMS code

Link to WHO Definition

Desbuquois syndrome – http://id.who.int/icd/entity/1222715099

Desbuquois syndrome is a rare osteochondrodysplasia which manifestations include short stature of prenatal onset with rhizomelic and mesomelic shortness, marked joint laxity, kyphoscoliosis and characteristic facial dysmorphism. The disease is clinically heterogeneous with variable severity.