Several conditions may mimic the Fetal Alcohol Spectrum Disorder (FASD). These need to be considered before the diagnosis of FASD is confirmed.
Patient selection: child being evaluated for a fetal alcohol spectrum disorder (FASD)
Genetic Disorder
Gene or Chromosome Affected
Aarskog-Scott syndrome
FGD1
Williams-Beuren syndrome
microdeletion 7q11.23
Noonan's syndrome
PTPN11, SOS1, KRAS, NRAS, others
Dubowitz syndrome
autosomal recessive
Brachmann DeLange (Cornelia DeLange) syndrome
NIPBL
Velocardiofacial Syndrome
del 22q11.2
Duplication 15q Syndrome
duplication 15q
Metabolic exposures:
(1) maternal PKU (phenylketonuria)
Teratogenic exposures:
(1) toluene embryopathy
(2) fetal hydantoin/dilantin syndrome
(3) fetal valproate syndrome
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Specialty: Pedatrics, Toxicology
