question-icon

Is epicanthic fold a genetic disorder?

default
Posted on Fri, 22 Jul 2016
Question: Hi,
I am worried about my son. He is 3 years old and appears to have epicanthal folds. His Dr has never mentioned this but I just noticed. I am now panicked that he may have a genetic disorder. What are our genetic disorders usually diagnosed by? He seems to be a thriving typical child so far. Are epicanthal folds common without genetic issues? We are not from any Asian descent either.
Thanks
doctor
Answered by Dr. Pradeep Kumar Jain (31 minutes later)
Brief Answer:
Don't worry,this may be normal variant

Detailed Answer:
Hello

Thanks for asking on this platform

I have gone through the detail and do understand your concern.
Though epicantic fold is a common feature in children of Asian origin,it can be there in any race.
In few children it is part of developmental process and as the bridge of nose begun to raise the epicantic fold disappears.
You are right that if epicantic fold has been noticed in non Asian babies,few genetic syndromes must be ruled out in which this fold is commonly seen.
The genetic disorder or syndrome is defined as a constellations of abnormal features or defects.By only one feature one can be labelled as a genetic disorder.
To alleviate your anxiety here I am describing the babies with genetic disorder.
The most common one is Down syndrome.
In down syndrome the baby has a characteristic facies like upward slanting of eyes,depressed nasal bridge,widely spaced eyes,epicanthic fold,single palmer crease,increased space been the first and second toe etc.Apart from this there may be defects in other organs like heart,kidney,brain etc too.
Similarly other syndromes also have characteristic facies.In most of the genetic disorder the baby's have delayed developmental milestones.
So I won't get worried if there is no developmental delay,baby is growing well and your physicians have not noticed any abnormalities in their clinical examination during your previous visits.
Many parents just hop from one doctor to the other because of this epicanthic fold only but all goes in vain.
Here the only thing needed is reassurance of the parents.
So if not properly examined earlier I would suggest you to get him examined by a physician. Otherwise you need not to worry.Just wait and watch if it gets resolved.

wishing for your baby's good health.
Let me know if you have any more doubts.
Reagrds
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
default
Follow up: Dr. Pradeep Kumar Jain (2 hours later)
Thank you so much for the detailed response if had helped ease my mind. He has been followed by a dr throughout his life for regular checkups and any genetic issues have never been brought up. He had always been on time with all his milestones and has not had any health issues. I have uploaded 2 pictures of him if you would not mind taking a look to see if any defects stand out to you. Once is of his eye to see if he has epicanthal folds and the other is just of his face. Sorry if I seem neurotic but I am a little worried.
Thank you
XXXX
doctor
Answered by Dr. Pradeep Kumar Jain (3 hours later)
Brief Answer:
Don't worry,most likely a normal variant

Detailed Answer:
Hi

Thanks for follow up

I have seen the images.First of all I want to say that your con is very cute.:) and second don't think yourself as a neurotic.Being concerned about her child is a very normal phenomena.
In both the pic epicanthic fold is seen.There are no other significant abnormality.
I wont get worried as you are in regular follow up with your pediatrician as nothing abnormal has been found.
So this epicanthic fold is most likely a normal variant and there is nothing much to worry.

Regards
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
Answered by
Dr.
Dr. Pradeep Kumar Jain

Pediatrician, Cardiology

Practicing since :2006

Answered : 2069 Questions

premium_optimized

The User accepted the expert's answer

Share on
Is epicanthic fold a genetic disorder?

Brief Answer: Don't worry,this may be normal variant Detailed Answer: Hello Thanks for asking on this platform I have gone through the detail and do understand your concern. Though epicantic fold is a common feature in children of Asian origin,it can be there in any race. In few children it is part of developmental process and as the bridge of nose begun to raise the epicantic fold disappears. You are right that if epicantic fold has been noticed in non Asian babies,few genetic syndromes must be ruled out in which this fold is commonly seen. The genetic disorder or syndrome is defined as a constellations of abnormal features or defects.By only one feature one can be labelled as a genetic disorder. To alleviate your anxiety here I am describing the babies with genetic disorder. The most common one is Down syndrome. In down syndrome the baby has a characteristic facies like upward slanting of eyes,depressed nasal bridge,widely spaced eyes,epicanthic fold,single palmer crease,increased space been the first and second toe etc.Apart from this there may be defects in other organs like heart,kidney,brain etc too. Similarly other syndromes also have characteristic facies.In most of the genetic disorder the baby's have delayed developmental milestones. So I won't get worried if there is no developmental delay,baby is growing well and your physicians have not noticed any abnormalities in their clinical examination during your previous visits. Many parents just hop from one doctor to the other because of this epicanthic fold only but all goes in vain. Here the only thing needed is reassurance of the parents. So if not properly examined earlier I would suggest you to get him examined by a physician. Otherwise you need not to worry.Just wait and watch if it gets resolved. wishing for your baby's good health. Let me know if you have any more doubts. Reagrds