HNRNPC-related neurodevelopmental disorder

HNRNPC-related neurodevelopmental disorder is a condition that affects brain development and function, leading to global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphism. It is caused by heterozygous pathogenic variants in the HNRNPC gene. The condition is typically recognized in early childhood as delays and challenges in development become apparent. Although precise prevalence data are not established, affected individuals display a range of features and varying levels of severity.

Individuals with HNRNPC-related neurodevelopmental disorder may present with global developmental delay, which can affect learning and everyday functioning, along with intellectual disability and behavioral abnormalities. Some children also exhibit subtle differences in facial features. That not all individuals experience every feature and that the severity of symptoms can vary considerably.

The disorder results from heterozygous pathogenic variants in the HNRNPC gene. Although details about the specific protein function are not provided in the available data, disruption in HNRNPC is understood to affect normal neurodevelopment. As the condition arises from a germline variant, the change is present in all cells from early development. Families are encouraged to seek genetic counseling to better understand the implications of these genetic changes.

Currently, management of HNRNPC-related neurodevelopmental disorder focuses on supportive care and symptom management. Treatment is tailored to each individual and typically involves a multidisciplinary team to address developmental, intellectual, and behavioral challenges. Supportive therapies such as speech therapy, occupational therapy, and individualized educational plans may be beneficial. Additionally, genetic counseling is recommended to help families understand the condition and explore management options with their healthcare team.

HNRNPC-related neurodevelopmental disorder is a lifelong condition with a highly variable course. Outcomes depend on factors including symptom severity, age at diagnosis, and access to specialized care. With current standards of care, many individuals experience periods of stability and benefit from targeted interventions that help manage their symptoms. Outcomes described in medical literature continue to evolve as standards of care improve, and families are encouraged to connect with genetic counselors and specialist care teams for ongoing guidance.