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Cohen's Syndrome And its Relationship to Congenital Malformations

Wednesday, August 4, 2021
Cohen's Syndrome And its Relationship to Congenital Malformations
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Cohen syndrome is one of the rare diseases, which is a genetic disorder somewhat variable that causes deformities of the head, face, hands and feet, deformities of the eyes, and intellectual disability, and according to what was mentioned by the rarediseases website, affected individuals usually suffer from microcephaly, a condition that indicates that the circumference The head is smaller than expected for the age and sex of the infant.


In many older patients , obesity is found , especially around the trunk and is associated with thin arms and legs, and the signs and symptoms of Cohen syndrome may differ from one individual to another, although researchers were able to identify a clear syndrome with distinctive or "essential" features, but much about this The disorder is not fully understood, and several factors, including the small number of cases identified and the lack of large clinical studies, prevent clinicians from developing a complete picture of associated symptoms and diagnosis.


It is therefore important to note that affected individuals may not have all symptoms, and parents should talk to their pediatrician and medical team about their specific condition, associated symptoms, and general prognosis .


Newborns with Cohen syndrome usually have


Feeding and breathing difficulties due to hypotonia in the first few days of life.


Some newborns may have weak or high-pitched cries.


Some children may show a failure to gain weight and grow, as expected based on gender and age (failure to thrive).


An infant's joints may be "loose", which means they have an abnormally large range of motion (joint hypermobility).


Mild to moderate microcephaly often develops during the first year of life and persists into adulthood .


As children age, they may show delays in reaching normal developmental stages.


Mild to moderate intellectual disability is non-progressive and affected individuals demonstrate an ability to learn new concepts.


During childhood, often around the age of five, distinctive facial features may appear, including large ears.


Additional eye abnormalities frequently associated with Cohen syndrome, including an abnormal curvature of the cornea (astigmatism), reduced corneal size, small eye size, and corneal degeneration. 


Cohen syndrome is caused by changes in the COH1 gene. This gene is also known as the VPS13B gene. The genes provide instructions for creating proteins that play an important role in many body functions. When a gene change occurs, the protein product may be defective, inactive, or absent. A specific protein, this can affect many body systems.

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