Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome (also known as Toriello-Carey syndrome) is an extremely rare congenital malformation syndrome characterized by the combination of orofacial clefting, intestinal malrotation, and cardiac defects. The condition is typically apparent at birth and affects multiple organ systems. Key clinical features include cleft lip and/or cleft palate, malrotation of the intestines (abnormal positioning of the bowel that can lead to obstruction), and congenital heart defects of variable type and severity. Additional features that have been reported in affected individuals include Robin sequence (micrognathia, glossoptosis, and cleft palate), laryngeal and subglottic abnormalities, central nervous system anomalies such as agenesis of the corpus callosum, and intellectual disability. Some patients may also present with hypotonia and short stature. The syndrome was first described by Toriello and Carey, and only a small number of cases have been reported in the medical literature, making it difficult to fully delineate the clinical spectrum. The prognosis depends largely on the severity of the cardiac and gastrointestinal malformations. Treatment is supportive and symptom-based, typically requiring a multidisciplinary approach. Surgical intervention is often necessary for the cleft lip/palate repair, correction of intestinal malrotation (Ladd procedure), and repair of congenital heart defects. Ongoing monitoring by specialists in cardiology, gastroenterology, genetics, and developmental pediatrics is recommended. There is no specific cure or targeted therapy for this syndrome, and management focuses on addressing individual malformations and optimizing developmental outcomes.

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