Consequently, biallelic loss-of-function mutations including missense, nonsense, frame-shift mutations, insertions and deletions, and splice site mutations in the human Npr2 gene result in acromesomelic dysplasia type Maroteaux (AMDM; OMIM602875), a skeletal dysplasia with an extremely short and disproportionate stature (Bartels et al., 2004; Potter, 2011; Kuhn, 2016). This evidence concerns the gene NPR2 and acromesomelic dysplasia 1, Maroteaux type.