Kapur-Toriello syndrome

Kapur-Toriello syndrome is an extremely rare multiple congenital anomaly syndrome characterized by a distinctive combination of craniofacial, cardiac, and other developmental abnormalities. First described by Kapur and Toriello in 1991, the condition presents at birth with features including severe Pierre Robin sequence (micrognathia, glossoptosis, and cleft palate), cardiac malformations, intestinal malrotation, and urogenital anomalies. Affected individuals may also exhibit brain abnormalities such as absent olfactory bulbs and tracts (arhinencephaly), abnormal ears, and skeletal anomalies. The craniofacial features are among the most prominent findings and include a small jaw (micrognathia), cleft palate, low-set or malformed ears, and a broad or depressed nasal bridge. Congenital heart defects, including septal defects and other structural cardiac anomalies, are frequently reported. Additional features may include intestinal malrotation, renal anomalies, and genital abnormalities. The condition has been associated with a poor prognosis, with several reported cases resulting in early neonatal death. There is no specific treatment for Kapur-Toriello syndrome. Management is supportive and symptomatic, focusing on addressing individual malformations through surgical correction where possible (such as cardiac surgery or cleft palate repair), respiratory support for airway compromise related to Pierre Robin sequence, and multidisciplinary care. The genetic basis of this condition remains incompletely understood, and only a very small number of cases have been reported in the medical literature.

Common questions about Kapur-Toriello syndrome