Toddler eyebrow/forehead abnormality?

[helpplease2020]

Posting here for traffic & name changed.

My child has unusual eyebrows and a hair whorl on the front of his forehead (like the sort you have on the back of your head).

I went to the GP when he was little and the GP dismissed my concerns as being new mother anxiety.

The only similar eyebrow pattern I could find online was children with trisomy 18:

www.jpeds.com/article/S0022-3476(12)00748-2/pdf

Maybe I shouldn't have mentioned this to the GP - I tried to explain that he obviously doesn't have any of the other severe indicators. He seems fine physically however now at 19 months he isn't really talking apart from the odd word here and there.

He vocalises a lot but sounds not words - he will say a word a few times but then it stops. A few weeks ago, he said mama to me a few times but it has stopped now.

I don't know if the two things are connected - maybe I am just an anxious mother but I am concerned.

I've attached a photo but it is difficult to see as the hair is light.

Has anyone else here ever had a child with a whorl on the front of their face?

Thank you.

It doesn't look like the photos in your link, and if your child had Edward's/Trisomy 18, you'd definitely know......it likely would have been caught while your DC was still in the womb and if not, you'd be contending with serious heart and lung issues.

If you are worried about worried about the speech (though I think everything you've stated is within normal age for 19 months), go see GP again so they can reassure you.

Did the OP come back ? I posted on this years ago and I could see signs of a genetic condition from her original pics .

I wonder how it turned out .

Genetic conditions can be quite obvious visually. Ear position is a bit of a giveaway but there are other things.

Its quite normal for people to have funny little hair patterns, birthmarks etc. I know DC with an extra toe! I've known people with some slightly unusual facial hair formations but most adults have had cosmetic treatment to conceal things like this and so you wouldn't notice it.

Your DC is still quite young so i wouldn't worry over much yet about speech.

Hello everyone, thank you for all of your help.

My son was diagnosed with autism and will be diagnosed with ADHD. We are waiting to do genetic testing when he is older because he will not sit for a blood test currently. We have been referred to an ENT as he still struggles with speech and has an underdeveloped uvula. The hair pattern is still there and it looks like he has two eyebrows on one side. He is clever and kind and full of enthusiasm for life - but equally has major meltdowns and demand avoidance.

My advice, trust your gut - I was dismissed for years but now I get "early intervention would have helped so much".

I hope that helps @warmgray good luck with everything.

One of mine had a similar pattern. The skin grows outwards on the face and marks etc shift away from the centre. Over the year it kind of spread out, faded and straightened, there’s no real sign of it now

@helpplease2020 I replied under a different name at the time and I can see genetic facial markers and I'm not doctor . I do however have a son with a genetic condition and I see the features everywhere I go.. I'm amazed the medical professionals miss stuff like this .. still!

@poopoolala yes, we had a great paediatrician who was ready to do genetic testing but she left and our new paediatrician doesn't seem interested in having the tests done. We have also recently learned that some of my husband's cousins who live in a different country have genetic conditions as well as autism.

Trisomy 18 is Edwards Syndrome. You will probably struggle to have your concerns taken seriously, but it is possible that people have mosaic versions of genetic conditions, where only some of the genes are effected, this can sometimes result in a much milder presentation. Adults can have mosaic down syndrome or mosaic turners for eg and never know, as their traits are so mild. I think it is unlikely you will get a doctor to agree to the detailed genetic screening necessary unless he does go on to have developmental delays or other associated symptoms, I'm not familiar with those for Edwards. Just something to keep at the back of your mind I think?