Seaver Cassidy syndrome
Seaver Cassidy syndrome is a rare genetic disorder characterized by a variety of physical and developmental abnormalities. The syndrome is named after the two doctors, Dr. Laura Seaver and Dr. Michael Cassidy, who first described it in the medical literature.
Pronunciation
Seaver Cassidy syndrome is pronounced as "See-ver Cass-idy sin-drome".
Etymology
The syndrome is named after Dr. Laura Seaver and Dr. Michael Cassidy, who first described the syndrome in the medical literature. The term "syndrome" is derived from the Greek word "syndromos", which means "running together", referring to the group of symptoms that run together to define a particular condition.
Symptoms
The symptoms of Seaver Cassidy syndrome can vary widely among affected individuals. They may include developmental delay, intellectual disability, 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, seizures, and abnormalities of the hands and feet.
Causes
Seaver Cassidy syndrome is caused by mutations in a specific gene. The exact gene is not yet known, but research is ongoing to identify it. The syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell must have mutations for the individual to be affected.
Diagnosis
Diagnosis of Seaver Cassidy syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for Seaver Cassidy syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage seizures and other symptoms.
See also
- Genetic disorder
- Autosomal recessive inheritance
- Developmental delay
- Intellectual disability
- Microcephaly
- Hypotonia
External links
- Medical encyclopedia article on Seaver Cassidy syndrome
- Wikipedia's article - Seaver Cassidy syndrome
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