Acromesomelic Dysplasia Maroteaux Type (AMDM) results in severe short stature in humans (adult height <120 cm), brought about by the disproportionate shortening of the middle and distal segments of limbs and vertebrae. The skeletal system seems to be the only system affected in AMDM.
The gene NPR2 encoding the natriuretic peptide receptor B (NPR-B) has been strongly linked to AMDM. NPR2 is located on chromosome 9p13.3 and pathogenic variants are inherited in an autosomal recessive manner. Characteristic features of AMDM become prominent within the first few years of life. Most affected individuals tend to have normal intelligence and facial features.
NPR2