Smith-Magenis Syndrome
Description
Smith-Magenis Syndrome (SMS) is a rare genetic disorder that affects individuals across various aspects of their development, including physical, intellectual, and behavioral traits. This comprehensive blog aims to provide an in-depth understanding of SMS, encompassing its signs and symptoms, causes, diagnosis, management, and ways to thrive with this condition.
Genes Involved
The primary cause of SMS is a deletion of genetic material on chromosome 17, specifically in the region of the RAI1 gene. This gene plays a crucial role in regulating the development of various body systems.
Recognizing the Signs and Symptoms
Individuals with SMS exhibit a range of characteristics, including distinctive facial features such as a broad forehead, wide-set eyes, and a small chin. They may also experience intellectual disability, developmental delays, and behavioral challenges such as sleep disturbances, self-injurious behaviors, and attention-deficit/hyperactivity disorder (ADHD). Other common features include hearing loss, heart defects, and skeletal abnormalities.
Causes
Smith-Magenis Syndrome arises due to a deletion of a portion of chromosome 17. This deletion encompasses the RAI1 gene, which is essential for normal development. This genetic alteration is typically sporadic, meaning it occurs randomly and is not inherited from parents.
Inheritance/recurrence risk
In most cases, SMS is not inherited from parents. It arises due to a spontaneous deletion during the formation of eggs or sperm cells. However, there is a small risk of recurrence in future pregnancies, particularly if the deletion originated from the mother‘s egg cell.
