Pronunciation: hun'ter tom'son
Definition: 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.
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.