Down Syndrome and Turner Syndrome.

Are there any congenital anomalies that cause a lack of epicanthic folds in a child who would normally have them?

Yes, there are congenital anomalies that can cause a lack of epicanthic folds in a child who would typically have them. Epicanthic folds are the skin folds of the upper eyelid that cover the inner corners of the eyes and are commonly seen in individuals of East Asian descent. However, their presence or absence can vary due to genetics, ethnicity, and certain medical conditions.

One such congenital anomaly is Down syndrome, also known as trisomy 21. Down syndrome is caused by the presence of an extra copy of chromosome 21. People with Down syndrome often have distinct facial features, including a lack of prominent epicanthic folds. This is not always the case, as the degree of epicanthic folds can vary among individuals with Down syndrome.

Additionally, there are other genetic and chromosomal abnormalities that can affect the development of epicanthic folds. For example, Turner syndrome, which occurs in females due to complete or partial absence of the X chromosome, can sometimes result in a lack of prominent epicanthic folds.

It is important to note that the absence of epicanthic folds does not necessarily indicate a medical condition or abnormality. Variation in the presence or absence of epicanthic folds is a normal part of human genetic diversity and can be influenced by factors such as ethnicity, familial traits, and individual differences.

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