Smith
Smith Syndrome
Smith Syndrome (pronounced: /smɪθ sɪnˈdroʊm/) is a rare, genetic disorder characterized by specific facial features, growth delays, and intellectual disability. The term "Smith Syndrome" is derived from the English surname "Smith," named after the first physician who identified the syndrome.
Symptoms
The primary symptoms of Smith Syndrome include:
- Growth delay
- Intellectual disability
- Specific facial features such as a prominent forehead, wide-set eyes, and a thin upper lip
Causes
Smith Syndrome is caused by mutations in the SMITH1 gene. This gene provides instructions for making a protein that is important for normal growth and development.
Diagnosis
Diagnosis of Smith Syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.
Treatment
Treatment of Smith Syndrome is symptomatic and supportive. This may include physical therapy, special education, and other medical, social, and/or vocational services.
Prognosis
The prognosis for individuals with Smith Syndrome varies. Some individuals may have mild symptoms and live a normal life span, while others may have severe symptoms and a shortened life span.
See Also
External links
- Medical encyclopedia article on Smith
- Wikipedia's article - Smith
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