In addition, studies of gene defects (Kalay et al. 2011) suggest involvement in seckel syndrome type 5, a rare autosomal recessive disorder characterized by proportionate dwarfism (CEP152, Etr_68), and acromesomelic dysplasia (Robinson et al. 2013) which is an extremely rare, inherited, progressive skeletal disorder that results in a particular form of short stature (i.e., short-limb dwarfism, NPR2, Etr_6363). The gene discussed is NPR2; the disease is Seckel syndrome 5.