PAPPA2 and microcephaly: In conclusion, we have identified a new syndrome in two unrelated families with loss‐of‐function variants in PAPPA2 resulting in progressive growth failure, moderate microcephaly, thin long bones, a marked elevation of total IGF‐I concentrations due to impaired proteolysis of IGFBP‐3 and ‐5, and reduced fIGF‐I.