Cohen syndrome
Cohen Syndrome
Cohen Syndrome (pronounced: koh-en sin-drohm) is a rare genetic disorder characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). The syndrome is named after Dr. Michael Cohen who first described it in 1973.
Etymology
The term "Cohen Syndrome" is derived from the name of Dr. Michael Cohen, a Canadian geneticist who first identified and described the condition in 1973. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms" or "running together".
Symptoms
The symptoms of Cohen Syndrome can vary greatly among affected individuals. Common symptoms include:
- Developmental delay and intellectual disability
- Microcephaly (small head size)
- Hypotonia (weak muscle tone)
- Myopia (nearsightedness)
- Retinal dystrophy leading to progressive vision loss
- Neutropenia (low levels of neutrophils, a type of white blood cell)
- Characteristic facial features such as thick hair and eyebrows, long eyelashes, down-slanting eyes, and a bulbous nasal tip
Causes
Cohen Syndrome is caused by mutations in the COH1 gene. This gene provides instructions for making a protein that is involved in the transport of proteins and other materials within cells. Mutations in the COH1 gene disrupt this transport process, leading to the various symptoms associated with Cohen Syndrome.
Diagnosis
Diagnosis of Cohen Syndrome is based on clinical features, genetic testing, and laboratory findings. Genetic testing can confirm a diagnosis by identifying a mutation in the COH1 gene.
Treatment
There is currently no cure for Cohen Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and other interventions to address the specific symptoms and challenges faced by each individual.
See Also
External links
- Medical encyclopedia article on Cohen syndrome
- Wikipedia's article - Cohen syndrome
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