11 Unmistakable Signs You Might Be Dealing with Smith-Magenis Syndrome
Smith-Magenis syndrome is a disorder that affects the development of an individual in numerous different ways. This condition is the result of a genetic deletion that occurs on chromosome 17 in every cell in the body. Most of the features that manifest in Smith-Magenis syndrome can be attributed to the absence of the RAI1 gene on chromosome 17. A small percentage of cases are due to inherited gene deletion or mutation from one parent, while the remainder of cases results from a spontaneous genetic deletion or mutation in utero. Medical history, physical examination, and cytogenetic testing of the blood for gene deletions and mutations are utilized to diagnose Smith-Magenis syndrome. Treatment of this disorder is a collaborative effort with a team of different types of physicians and professionals to manage symptoms and prevent complications.
1. Distinctive Facial Features
Multiple distinctive facial features can manifest in Smith-Magenis syndrome. An individual affected by this syndrome may have a broad and square-shaped face, and cheeks that appear to be full or even puffy. A patient's eyes are often deep-set in the facial bones, and the lower jaw is more prominent than in unaffected individuals. An individual who has Smith-Magenis syndrome may present with a nose bridge and central facial region with an abnormally flattened appearance. The patient may have a full or plump upper lip that also curves in an outward direction, though their mouth as a whole may have a natural downward turn to it. The facial features of Smith-Magenis syndrome patients are sometimes not apparent enough to distinguish during early and late childhood, but they become more prominent as the individual grows older.
2. Issues With Sleep
An individual with Smith-Magenis syndrome may experience issues with their sleep. The prevalence of disturbances of natural sleep in Smith-Magenis syndrome patients is approximately eighty percent. An affected individual can experience challenges when trying to settle down to rest or lay down in bed at nighttime. It is also very common for an individual with this syndrome to wake up multiple times in the middle of the night. Despite the problems with getting a good night's sleep, individuals with Smith-Magenis syndrome tend to wake up earlier in the morning than others. Challenges that occur with sleep and sleep patterns tend to have an onset in an affected individual's childhood and may go through several changes as they reach adulthood. Because of the problems Smith-Magenis syndrome patients face with being able to get a good night's sleep, they present with fatigue during and throughout their day. Some patients will take several naps during the day to compensate for the sleep they lose at night.
