Fetal hydantoin syndrome (Q46696)

Fetal hydantoin syndrome is a fetopathy likely to occur when a pregnant woman takes the anticonvulsant drug phenytoin (diphenylhydantoin) for epileptic seizures. In utero exposure to this drug may result in a characteristic dysmorphic syndrome in the newborn, including low-set hair, short neck with pterygium colli, small nose, deep nasal bridge, epicanthus, hypertelorism, large mouth, malformed ears, hypoplastic distal phalanges of the fingers and toes and finger-like thumbs. These dysmorphic features are often associated with growth retardation and delayed psychomotor development. The mechanism underlying these anomalies has been shown to depend on maternal genetic characteristics, i.e. on maternal capacity to detoxify intermediate metabolites of phenytoin.