Abruzzo Erickson syndrome
Abruzzo Erickson Syndrome
Abruzzo Erickson Syndrome (pronunciation: a-bru-zo er-ick-son sin-drome) is a rare genetic disorder characterized by various physical abnormalities. The syndrome is named after the two scientists, Dr. Abruzzo and Dr. Erickson, who first described the condition in medical literature.
Etymology
The term Abruzzo Erickson Syndrome is derived from the names of the two scientists who first described the condition, Dr. Abruzzo and Dr. Erickson. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."
Symptoms
The symptoms of Abruzzo Erickson Syndrome can vary greatly among affected individuals. Common symptoms include cleft palate, hearing loss, eye abnormalities, and heart defects.
Causes
Abruzzo Erickson Syndrome is caused by mutations in the TBX1 gene. This gene provides instructions for making a protein that is involved in the development of various parts of the body.
Diagnosis
Diagnosis of Abruzzo Erickson Syndrome is based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include genetic testing, hearing tests, and imaging studies.
Treatment
Treatment of Abruzzo Erickson Syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may include surgery, physical therapy, and/or medication.
See Also
External links
- Medical encyclopedia article on Abruzzo Erickson syndrome
- Wikipedia's article - Abruzzo Erickson syndrome
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