Biallelic LoF variants in NPR2 are known to cause autosomal recessive (AR) acromesomelic dysplasia, Maroteaux type (AMDM; MIM: 602875), an endochondral bone growth disorder characterized by significant short stature, predominantly affecting the forearms and hands.42 This evidence concerns the gene NPR2 and acromesomelic dysplasia 1, Maroteaux type.