Congenital short bowel syndrome: Clinical aspects by systematic review.

OBJECTIVES: Congenital short bowel syndrome (CSBS) is a rare intestinal disorder characterized by inborn shortening of the bowel with mainly mutations in Coxsackie and Adenovirus receptor-like membrane protein (CLMP) and Filamin A (FLNA) genes. Clinical features are not well described; therefore, we aim to improve patient care by evaluating diagnostic approaches and identifying prognostic factors through the analysis of published cases. METHODS: We performed a systematic review of cases published between 2000 and 2024. RESULTS: Genetic analysis in 35 of the 61 CSBS cases revealed a CLMP mutation in 57.1%, FLNA in 25.7%, and others in 17.1%. Consanguinity was common with 42.4%. Nine families had affected siblings. Most cases were term births with normal birth weight. The first symptoms occurred after a median of 0.6 weeks, mostly vomiting and diarrhea. Median (range) small bowel length was 50.0 (20-85) cm. Comorbidities included malrotation in 87.2%. Nearly all cases required parenteral nutrition (PN), with 60% achieving enteral autonomy after a median follow-up of 15 months. Nine children died before the age of 2 years, six due to sepsis. No intestinal malignancy was reported. CONCLUSIONS: CSBS presents shortly after birth with the majority of affected cases achieving enteral autonomy in infancy, which may lead to an underestimation of incidence rates. Radiological imaging can be used to determine bowel length for diagnostic purposes and to initiate genetic counseling. Genetic testing is essential for mutation-specific prognosis and patient management. Complications associated with PN pose the greatest risk for adverse outcomes.