Smith-Magenis syndrome refers to a developmental disorder that affects several parts of the body. The most common characteristic of this disorder is a change in facial features which includes a broad, square-shaped face with full cheeks and a lower jaw that can be prominently visible. Other facial features include a mouth that is turned downward with an outward-curving upper lip. These unusual facial features may be subtle during childhood, though they tend to become distinctive later in childhood or adulthood. Dental abnormalities may also be seen in the patients.
Cognitively, these patients lack intellectual ability, have delayed speech and language skills. Apart from these they also experience sleep disturbances and behavioural problems.
Smith-Magenis syndrome is not really inherited, implying that if the mother or father has it, the child is not quite pre-disposed to have it too. The condition usually results because of a genetic change that takes place at the time of the formation of reproductive cells or during the early development of the fetus. In most cases of this disease, the patient does not have a history of the condition in his/her family.
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Smith-magenis syndrome is a developmental disorder that affects more than one part of the body.read more
The major symptoms of smith magenis syndrome include mild to moderate intellectual disability, distinctive facial features, sleep disturbances, and behavioral problems.read more