TABLE 4

Genetic and Teratogenic Conditions to Be Considered in the Differential Diagnosis of FASD7981

Malformation SyndromeEtiology
Cornelia deLange Syndrome OMIM 122470Autosomal dominant (Mutations in NIPBL, 60%)
Velocardiofacial Syndrome (del 22q11.2 Syndrome) OMIM #188400Chromosome microdeletion (del 22q11.2)
Duplication 15q Syndrome OMIM 608636Chromosome partial duplication (dup 15q)
Dubowitz Syndrome OMIM 223370Autosomal recessive
Noonan Syndrome OMIM 163950Autosomal dominant (Mutations in RAS-MAPK signal transduction pathway genes, PTPN11, SOS1, KRAS, NRAS, and others)
Williams Syndrome OMIM 194050Chromosome microdeletion (del 7q11.23, a contiguous gene syndrome incorporating the elastin gene)
Fetal Hydantoin SyndromeTeratogenic effects of hydantoin exposure during gestation
Fetal Valproate SyndromeTeratogenic effects of valproic acid exposure during gestation
Maternal Phenlyketonuria EffectsTeratogenic effects of high levels of phenylalanine, accompanying poorly controlled maternal phenylketonuria
Toluene EmbryopathyTeratogenic effects of maternal solvent exposure during pregnancy
  • This list is not comprehensive. OMIM, Online Mendelian Inheritance in Man.56