Desbuquois syndrome is a rare autosomal recessive chondrodysplasia. It has a wide clinical spectrum characterized by short stature of prenatal onset with rhizomelic and mesomelic shortness, joint laxity, and characteristic facial dysmorphism including a round face, prominent, bulging eyes, and midface hypoplasia. Radiologically, Desbuquois syndrome is characterized by a "Swedish key" or "monkey wrench" appearance of the proximal femur and advanced carpal and tarsal bone age. Other characteristic hand changes include an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal phalanx of the thumb, and phalangeal dislocations, but these features are only reported in a third of the patients.
Two forms of Desbuquois syndrome have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. Desbuquois Dysplasia 1 is associated with mutation in CANT1 gene.