In 2016, 1318 various FBN1 pathogenic variants linked with MFS were identified; however, only 59 (4.8%) comprising 37 missense mutations (2.8%) were linked with nMFS [23], again indicating that distinct genotype–phenotype associations may potentially dictate the timing and severity of the clinical presentation in the form of neonatal MFS (nMFS) versus MFS [23]. The gene discussed is FBN1; the disease is Marfan syndrome.