| Hunter-Thompson dwarfism
A severe form of acromesomelic dwarfism, characterized by shortening of the distal segments of the limbs; lower extremities are more severely affected than the upper limbs; often associated with dislocations of elbows, knees, and hips. Autosomal recessive inheritance, caused by mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene on chromosome 20q. | |