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


Williams-Beuren syndrome

microdeletion 7q11.23

Noonan's syndrome

PTPN11, SOS1, KRAS, NRAS, others

Dubowitz syndrome

autosomal recessive

Brachmann DeLange (Cornelia DeLange) syndrome


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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