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Has epicanthic folds and he is white. What can this be?

Feb 2013
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Answered by

Practicing since : 2002
Answered : 3176 Questions
Hello, my 6 month oldhas epicanthic folds and he is white. What is that from?
Posted Fri, 27 Sep 2013 in Child Health
Answered by Dr. E Venkata Ramana 30 minutes later
Brief Answer:
To look for any underlying syndromes.

Detailed Answer:

Thank you for your query on Healthcare Magic.

Epicanthal folds are common in children with some syndromes.

But they are normally seen in children with Asian descent, and may be seen in young children of any ethnicity before the bridge of the nose begins to raise.

Epicanthal folds are usually seen in the following syndromes:

Down syndrome

Fetal alcohol syndrome

Phenylketonuria (PKU)
XXXXXXX syndrome
XXXXXXX syndrome

Noonans syndrome

Rubinstein-Taybi syndrome.

But presence of single finding of Epicanthal folds in a child is not suggestive of a particular syndrome or disorder as it is seen in normal infants also as previously mentioned.

Other associated clinical and physical findings by a pediatrician will help to know to find out any presence of syndrome features in the child.

Investigations like karyotyping for the chromosomal study will rule out any underlying syndrome.

Metabolic screening and neonatal screening will rule out underlying metabolic problems such as phenylketonuria.

So clinical examination by the pediatrician is important to look for any other associated physical findings and karyotyping for chromosomes will definitely rule out any underlying syndrome.

Therefore I advise you to consult the pediatrician for thorough clinical examination and for investigations to know the cause for the presence of Epicanthal folds.

Hope I have answered your query, if you have any clarification please let me know.

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