Emanuel syndrome
Emanuel Syndrome
Emanuel Syndrome (pronounced e-man-u-el sin-drome) is a rare chromosomal disorder that affects multiple organ systems of the body. The syndrome is named after Dr. Beverly Emanuel, a geneticist who contributed significantly to the understanding of this condition.
Etymology
The term "Emanuel Syndrome" is derived from the name of Dr. Beverly Emanuel, who first described the condition in detail. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse".
Definition
Emanuel Syndrome is a complex chromosomal disorder characterized by multiple congenital anomalies, intellectual disability, and developmental delay. It is caused by the presence of an extra derivative chromosome that contains additional genetic material from chromosome 11 and 22.
Symptoms
The symptoms of Emanuel Syndrome can vary greatly among affected individuals. Common symptoms include microcephaly, congenital heart defects, kidney abnormalities, and cleft palate. Affected individuals may also have distinctive facial features, such as micrognathia, low-set ears, and hypertelorism.
Diagnosis
Diagnosis of Emanuel Syndrome is typically made through genetic testing, which can identify the presence of the extra derivative chromosome. Prenatal diagnosis is also possible through amniocentesis or chorionic villus sampling.
Treatment
There is currently no cure for Emanuel Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and occupational therapy. Regular monitoring and management of health issues, such as heart defects and kidney abnormalities, is also important.
Related Terms
- Chromosome 11
- Chromosome 22
- Derivative chromosome
- Congenital anomalies
- Intellectual disability
- Developmental delay
External links
- Medical encyclopedia article on Emanuel syndrome
- Wikipedia's article - Emanuel syndrome
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