Stromme syndrome

Stromme syndrome is an autosomal recessive congenital disorder that affects multiple organ systems, manifesting primarily as intestinal atresia, variable ocular abnormalities, and microcephaly, with possible involvement of the renal and cardiac systems. The condition is caused by pathogenic variants in the CENPF gene, which is important for cell division and developmental processes. It is typically recognized at birth due to gastrointestinal and cranial features, and its overall prevalence is very rare, affecting fewer than 1 in 1,000,000 people. While the severity of the syndrome can vary, some individuals may have a more severe presentation, whereas others experience milder symptoms or normal survival with only minor cognitive differences.

Individuals with Stromme syndrome most often present in the neonatal period with signs of intestinal atresia, which may prompt early medical evaluation. They can also exhibit ocular abnormalities and microcephaly, and in some cases, there may be involvement of the cardiac or renal systems. Not all individuals experience every feature, and the severity of symptoms can vary considerably from one affected person to another.

Stromme syndrome is caused by pathogenic variants in the CENPF gene, a gene involved in key cellular functions such as cell division and developmental signaling. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the altered gene—one from each parent—to be affected. This syndrome is more common when parents share a common ancestor, as the likelihood of both carrying the same rare variant is increased, leading to a 25% chance of recurrence in each pregnancy. Families are encouraged to seek genetic counseling to better understand the inheritance pattern and implications for family planning.

Currently, management of Stromme syndrome focuses on supportive care and symptom management. Treatment is highly individualized and typically involves a multidisciplinary team that may address gastrointestinal, ocular, cardiac, and renal complications as they arise. Since there are no treatments specifically approved or foundational therapies established for this condition, patients are managed based on their specific symptoms. Genetic counseling is recommended to help families understand the inheritance pattern and discuss available management options with their healthcare team.

Outcomes for individuals with Stromme syndrome vary widely based on the severity and extent of organ involvement. With current standards of care, many individuals experience a stable course with normal survival, although some cases can be severe and may be associated with early life complications. The course of the condition may involve periods of stability and, in certain cases, later challenges related to chronic organ involvement. Not all individuals experience all features, and the variability in symptoms means that the overall disease trajectory is highly individualized. Outcomes described in medical literature continue to evolve as standards of care improve, making ongoing surveillance and collaboration with specialized healthcare providers essential. Families are encouraged to connect with genetic counselors and specialists to navigate care decisions.