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.