3M syndrome 1

3M syndrome 1 is a condition characterized by prenatal growth restriction and marked postnatal growth delay, which results in a distinctive facial appearance and skeletal features. It is caused by changes in the CUL7 gene that affect normal growth and development. The syndrome generally becomes apparent in infancy due to its significant impact on growth. Although precise prevalence estimates are not available, the condition is recognized as a rare genetic disorder inherited through an autosomal recessive pattern.

The clinical presentation of 3M syndrome 1 is dominated by intrauterine growth retardation and postnatal growth delay, which are consistently observed in affected individuals. Additional features that may be present include a long philtrum, hyperlordosis, a triangular facial shape, and a pointed chin, with these findings occurring in a variable proportion of patients. These physical manifestations contribute to a distinctive appearance and may aid in raising clinical suspicion for the condition. Not all individuals experience all features, and severity varies considerably.

3M syndrome 1 is caused by pathogenic variants in the CUL7 gene, which plays a critical role in normal growth and development. When the gene does not function as expected, it leads to disturbances in cell processes that are essential for proper growth, resulting in the clinical features observed. The condition is inherited in an autosomal recessive manner, meaning an affected child has received one altered copy of the gene from each parent. Genetic counseling is recommended for families to better understand these implications and assess risks for future pregnancies.

Currently, management of 3M syndrome 1 focuses on supportive care and symptom management, as there are no foundational therapies or approved treatments specifically for the condition. Care typically involves a multidisciplinary team approach to address the various clinical challenges, including monitoring growth, nutritional support, and physical therapy where appropriate. Patients and families are encouraged to discuss individualized treatment options with their healthcare team and consider genetic counseling to better understand the condition and inform family planning.

The course of 3M syndrome 1 is highly variable. Many individuals continue to experience significant growth challenges throughout childhood and into adulthood, and outcomes depend on a range of factors including the severity of symptoms and access to supportive care. With current standards of care, improvements in quality of life have been observed over recent decades. Outcomes described in medical literature continue to evolve as standards of care improve, and families are encouraged to connect with genetic counselors and specialists who are familiar with the condition for ongoing support and guidance.