Smith Martin Dodd syndrome

Smith Martin Dodd syndrome

Smith Martin Dodd syndrome (pronounced: smith mar-tin dodd sin-drome) is a rare genetic disorder characterized by a variety of physical and developmental abnormalities.

Etymology

The syndrome is named after the three doctors, Dr. Smith, Dr. Martin, and Dr. Dodd, who first described the condition in the medical literature.

Symptoms

The symptoms of Smith Martin Dodd syndrome can vary greatly from person to person. However, common symptoms often include intellectual disability, growth retardation, microcephaly (small head size), hypotonia (low muscle tone), and distinctive facial features such as a prominent forehead, wide-set eyes, and a small jaw. Some individuals may also have heart defects, kidney abnormalities, and other health problems.

Causes

Smith Martin Dodd syndrome is caused by mutations in a specific gene. The exact gene is not yet known, but it is believed to be an autosomal recessive condition, meaning that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the syndrome.

Diagnosis

Diagnosis of Smith Martin Dodd syndrome is typically based on the presence of characteristic physical features and developmental delays. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Smith Martin Dodd syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and treatment for any associated medical conditions.

Prognosis

The prognosis for individuals with Smith Martin Dodd syndrome varies depending on the severity of symptoms and the presence of associated health problems. With appropriate support and treatment, many individuals with the syndrome can lead fulfilling lives.

See also

• Genetic disorder
• Autosomal recessive
• Intellectual disability
• Microcephaly
• Hypotonia

External links

• Medical encyclopedia article on Smith Martin Dodd syndrome
• Wikipedia's article - Smith Martin Dodd syndrome

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