Summary
Acromesomelic dysplasia Hunter-Thompson type (AMDH) is a very rare autosomal recessive disorder belonging to the group of acromesomelic dysplasias. AMDH is characterized: 1) clinically, by severe dwarfism with abnormalities limited to the limbs. The middle and distal segments are the most affected, the lower limbs are more affected than the upper limbs, and dislocation of the large joints frequently occurs. 2) radiologically, by missing or fused skeletal elements within the hands and feet while axial skeleton is normal. The facial appearance and intelligence are normal, and there are no vertebral abnormalities. The AMDH gene is identified as cartilage-derived morphogenetic protein-1 (CDMP-1) on human chromosome 20q11.2. The same gene is responsible for autosomal recessive acromesomelic dysplasia Grebe type, autosomal recessive DuPan syndrome and autosomal dominant brachydactyly type C. *Authors: Dr. L. Faivre and Dr. V. Cormier-Daire (February 2005).*
