[MIM 201 250]

Extremely rare. Osteochrondrodysplasia. Autosomal recessive transmission of a mutation in the CDMP-1 (cartilage-derived morphogenetic protein-1) gene called GDF5 on 20q11.2.

Association of:

-         severe dwarfism without facial dysmorphism nor vertebral anomalies

-         significant shortening of the  proximal and medial segments of the lower limbs

-         absence or fusion of bones of the hands and feet

-         frequent dislocations of the large joints 

-         normal intelligence

Anesthetic implications: 

short stature; correct size of the endotracheal tube ? increased risk of bronchial intubation; difficult peripheral venous access 

References :         

Updated: August 2019