From the Research
Coffin Siris syndrome is a rare genetic disorder that requires a multidisciplinary approach to manage its associated symptoms, including developmental delays, intellectual disability, and seizures, with a focus on improving quality of life through early intervention and regular monitoring by specialists 1.
Key Characteristics
- Developmental delays and intellectual disability
- Distinctive facial features and abnormalities of the fifth fingers or toes
- Associated conditions such as seizures, cardiac defects, feeding difficulties, and gastrointestinal issues
Management
- Multidisciplinary approach to address developmental delays and associated conditions
- Developmental therapy, speech therapy, physical therapy, and occupational therapy
- Medical management of associated conditions, including seizures (using anticonvulsants like levetiracetam or valproic acid)
- Regular monitoring by specialists, including neurologists, cardiologists, gastroenterologists, and orthopedic surgeons
Genetic Counseling
- Recommended for affected families to understand inheritance patterns
- Most cases occur due to de novo mutations, but can occasionally be inherited in an autosomal dominant manner
Recent Findings
- A study published in 2023 found that 7.2% of patients with Coffin Siris syndrome reported having seizures, with a median age of seizure onset of 2.7 years 1
- Another study published in 2021 found that patients with ARID1B-related Coffin Siris syndrome often have focal epilepsy with seizures arising from motor areas, with onset in the first years of life and susceptibility to fever 2