congenital short bowel syndrome, autosomal recessive

Congenital short bowel syndrome, autosomal recessive, is a condition affecting the gastrointestinal system that is characterized by a significantly shortened small intestine present at birth. Variants in the CLMP gene are implicated in this condition, affecting intestinal development. It presents in the neonatal period with a range of gastrointestinal symptoms, and while precise prevalence rates are not established, it remains a very uncommon disorder. The presentation and severity can vary widely among affected individuals.

The clinical presentation is marked by several consistent gastrointestinal abnormalities. Newborns typically exhibit a congenital shortened small intestine, accompanied by vomiting, abdominal distention, and intestinal atresia. They may also experience dehydration, intolerance to protein, metabolic acidosis, chronic diarrhea, failure to thrive, and intestinal malrotation. In some cases, projectile vomiting is observed. Not all individuals experience all features, and severity varies considerably.

This condition is caused by pathogenic variants in the CLMP gene, which play a crucial role in normal intestinal development. It is inherited in an autosomal recessive pattern, meaning that an affected child has inherited altered copies of the gene from both parents. As a result, each parent is typically a carrier without showing symptoms, and there is a 25% recurrence risk for future pregnancies when both parents are carriers. Genetic counseling is recommended to help families understand the risks and implications for family planning.

Currently, management focuses on supportive care and symptom management, as there are no specific foundational or FDA-approved treatments for this condition at this time. Treatment is tailored to the individual and typically involves a multidisciplinary team to address complications such as dehydration, malnutrition, and gastrointestinal distress. Nutritional support, hydration, and in some cases, surgical interventions to manage intestinal malformations may be necessary. Genetic counseling is recommended to assist families in understanding the implications of the condition and to explore supportive care options.

Outcomes in congenital short bowel syndrome vary greatly depending on the severity of intestinal involvement and access to specialized care. With current standards of care, many individuals benefit from supportive management and may experience improvements in quality of life over time, although complications related to nutrient absorption and gastrointestinal function can pose ongoing challenges. Outcomes described in medical literature continue to evolve as standards of care improve, and severity and symptoms vary widely between individuals. Families often find it helpful to connect with genetic counselors and specialty teams to discuss management strategies and long-term care options.

Clinical trials are underway exploring new treatment approaches for congenital short bowel syndrome. Although there is only one active trial at present, individuals interested in emerging therapies are encouraged to search ClinicalTrials.gov or consult their healthcare team to learn more about eligibility and ongoing research developments.