Achiasma and Kapur-Toriello syndrome: Two rare entities

PURPOSE: Describe a unique case of achiasma in a patient with Kapur-Toriello syndrome. OBSERVATIONS: We provide a brief review of achiasma with common findings on examination and imaging studies, and a published classification system. In addition, consistent with the rare Kapur-Toriello syndrome, he had a right unilateral cleft lip and palate, neurologic abnormality in his achiasma, anal atresia, vesicoureteral reflux, hypospadias, and growth deficiency. CONCLUSIONS: and Importance: Achiasma is an incredibly rare neurological deficit and we present the first case of achiasma in Kapur-Toriello syndrome.