ALAGILLE SYNDROME Meaning and
Definition
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Alagille syndrome is a rare genetic disorder that affects multiple systems of the body, primarily the liver and the heart. It is named after a French physician, Daniel Alagille, who first described the syndrome in the 1960s.
Individuals with Alagille syndrome often have a characteristic set of features including a liver condition known as cholestasis, which is caused by a reduction in the size and function of the bile ducts. This can lead to the accumulation of bile acids in the liver and subsequent damage. In addition to liver problems, Alagille syndrome is also associated with heart defects such as pulmonary stenosis, where the valve controlling blood flow between the heart and lungs is narrowed.
Other manifestations of Alagille syndrome may include butterfly-shaped vertebrae, distinctive facial features such as a broad forehead and a small, pointed chin, as well as problems with growth and development. The syndrome can also affect various organs and systems, leading to abnormalities in the kidney, eyes, and skeletal structure.
The disorder is caused by mutations in the JAG1 or NOTCH2 genes, which normally play crucial roles in development and maintenance of certain tissues. Alagille syndrome is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the disorder.
Doctors often rely on a combination of physical examination, blood tests, imaging studies, and genetic testing to diagnose Alagille syndrome. Management of the condition focuses on addressing the specific symptoms and complications through various interventions including medication, surgery, and regular monitoring of liver and heart function.
Common Misspellings for ALAGILLE SYNDROME
- zlagille syndrome
- slagille syndrome
- wlagille syndrome
- qlagille syndrome
- akagille syndrome
- apagille syndrome
- aoagille syndrome
- alzgille syndrome
- alsgille syndrome
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- alqgille syndrome
- alafille syndrome
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- alatille syndrome
- alagulle syndrome
- alagjlle syndrome
- alagklle syndrome
Etymology of ALAGILLE SYNDROME
The word "Alagille Syndrome" is named after Dr. Daniel Alagille, a French pediatrician who first described the condition in 1969. He identified a group of patients with a particular set of symptoms, including liver problems and heart defects, and subsequently, the condition became known as Alagille Syndrome.
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