From the Research
3M syndrome is a rare autosomal recessive disorder characterized by short stature and recognizable facial and musculoskeletal features, caused by pathogenic variants in the CUL7, OBSL1, and CCDC8 genes, as reported in the most recent study 1.
Key Characteristics of 3M Syndrome
- Short stature
- Recognizable facial features, including a triangular face, prominent forehead, and pointed chin
- Musculoskeletal features, such as prominent heels and skeletal abnormalities
- Normal intelligence and development
Causes and Inheritance
- Caused by mutations in the CUL7, OBSL1, or CCDC8 genes
- Follows an autosomal recessive inheritance pattern, meaning both parents must carry a copy of the mutated gene for a child to be affected
Management and Treatment
- No specific cure for 3M syndrome
- Treatment focuses on managing symptoms through:
- Growth hormone therapy, although its effectiveness varies 2
- Regular monitoring of growth and development
- Addressing any orthopedic issues that may arise
- Genetic counseling is important for affected families
- Early diagnosis and multidisciplinary care from specialists in genetics, endocrinology, and orthopedics are essential for optimal management of this condition
Recent Findings
- A recent study 1 reported on 11 new patients with 3M syndrome, identifying five novel pathogenic variants and expanding the genetic landscape of the syndrome
- Another study 2 found that initiating growth hormone therapy in the prepubertal period provided better outcomes than after puberty, although the response to GH therapy decreased over time.