The evaluation of psychotic individuals for inherited or congenital etiologies is fraught with complexity. The authors reviewed the published literature and found 62 congenital disorders that include psychosis. Their prevalence, workup, genetics, and associated neuropsychiatric features are described. Eighteen disorders (29%) have distinct phenotypes ("doorway diagnoses"); 17 disorders (27%) are associated with mental retardation; and 45 disorders (73%) have prominent neurological signs. Thirty-four disorders (55%) can present without such distinct characteristics, and are thus more readily overlooked. We recommend a systematic and cost-effective differential diagnostic approach based on estimated prevalence and most prominent associated signs.
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