This is the first picture where I was concerned that Noah had Down syndrome
Fairly certain that I knew Noah had Down syndrome based on this picture from the delivery room
Looking at your precious new addition you may or may not notice anything out of the ordinary about their appearance. Your pediatrician however likely knew instantly when they saw your baby that something was different. They have been trained to pick up on these sometimes subtle differences.
A syndrome is characteristics that are consistently found together. Frequently this is associated with a change in genetics. Down syndrome was “discovered” by finding consistent features and physical characteristics that were consistently together along with a mental disability.
The features listed below when present alone do not indicate Down syndrome, but when found together suggest this diagnosis. There are several other Down syndrome markers at birth, but the ones I’ve listed are some of the easier ones for new parents to pick up on their own.
I am including the pictures that I used to diagnose Noah. There were two pictures specifically that I saw in the delivery room and recovery that I am fairly certain convinced me that Noah was born with Down syndrome prior to holding him in my arms. In Rick’s version of Noah’s birth story he is unaware of my concern as I kept this to myself until my pediatrician came to confirm my fears.
The outer corner of the eye will be turned up rather than down. This is sometimes referred to as almond shaped eyes. The shape is also very similar to that of someone of Asian descent. This will likely be the most predominant physical feature of Down syndrome as your child grows up.
We love these eyes as you can tell by the top of our blog, and it’s actually the best picture to see how the outer corners are pointing up rather than down. Look at your own eyes in the mirror to see how the fissure typically points down. Another beautiful addition to the eyes are Brushfield spots which are the white flecks that can be seen close to the periphery of the iris (the colored part) of the eye, and are often described as stars. Up slanted palpebral fissures are one of the most obvious down syndrome markers at birth. (Noah’s are pretty obvious as you can see in his pictures.)
Looking at your baby from the side there will not be much curve from the nose, cheeks or mouth. There is also not much shape to the cheeks when looking at the baby from the front; the cheeks seem to hang on the face. This is due to the poor tone in the muscles of the face and is actually a characteristic of hypotonia rather than a true Down syndrome marker. You can see below that there is not much definition to Noah’s face and his cheeks are just kind of hanging there. He frequently has his mouth hanging open as well with his tongue sticking out, which brings us to the next feature.
New parents of children born with Down syndrome often ask “Why does my baby stick his / her tongue out?” The child is frequently sticking out his/her tongue either because of a small mouth, large tongue, or simply poor tone. There are some good debates on what causes this which I am not going to get into. I got extremely worried when my entire family couldn’t stop talking about how Noah kept sticking his tongue out and how cute it was. Rick likes to repeat my comment (which I said in my head) of
“That’s not cute….that’s Down syndrome.” 🙂
There will likely be many speech therapy appointments to help your child with Down syndrome keep their tongue in as well as work on speech development.
People will tell you the single palmar crease or simian crease is the hallmark physical characteristic of a child born with Down syndrome. It’s a single crease across the palm of the hand.
Despite the theory that this is so common, only 45% of children have a simian crease. The absence of this physical characteristic doesn’t mean that your child does not have Down syndrome, but people (including yourself) will try to convince you otherwise while you await testing. Noah is part of the 55% who does not have a simian crease. This is again a result of hypotonia as the hand was not held in a tight fist while he/she was growing in the womb.
You may have noticed a theme above that several of the features are from hypotonia and not actually a distinct physical marker of Down syndrome. Hypotonia will be the biggest challenge the first few years and will be the reason for your frequent therapy sessions.
You have to feel hypotonia; it is hard to diagnosis from pictures. The minute I held Noah in my arms I knew that he had hypotonia.
Your baby will feel floppy or limp. When you hold him or her, it feels like they are going to slip through your hands or arms. If you lay them across your hand, they will look like a wet noodle rather than being able to hold their form.
This will affect every muscle from face to ankles. Tummy time is your new best friend and child’s worst enemy as it will help your baby build head control and be the first building block for their development.
You will also notice that when they are laying down their arms and legs fall out to the sides. See the picture on the left for an excellent example. I added a bonus feature in the picture with the footprint showing the wide space between the first (big) and second toe often referred to as sandal gap toes.
Hypotonia even has its upside as your child will be a total cuddle bug and melt into your body. It is honestly the best feeling ever to have your little one snuggled against you. Rick and I fight over who gets to cuddle with Noah, so be ready to battle.
Despite these features, I am fairly certain the majority of people are going to find your child to be the cutest baby they have ever seen. In fact, the majority of the population will have no idea your baby even has these physical features or even Down syndrome for that matter. In fact, I keep waiting for someone to ask if Noah has Down syndrome while I’m out and about, but no one has been brave enough to ask…yet.
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[This post is a part of the “New Parent Guide To Down Syndrome” blog series. Be sure to check out the other posts!]
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This is a great post! A lot of people wonder how the doctors knew j had Ds and this is a great explanation.
I remember before we knew for sure and before the Dr. even said they had suspicions we noticed j's eyes and tongue but thought it was just him. My eyes are almond shaped, too...so it was very easy to shrug off. But it was always in the back of my mind. I just knew he had Down syndrome. Something that people always said and still do say (because they don't know he has Down syndrome) is, "Oh my gosh, his tongue!! It's so big/sticks out!!! How cute!!" I say the same thing now, "That's because he has Down syndrome. :)" Before we knew he had Ds, it did bother me that I had no idea why his tongue did that all the time and people would always comment on it...I knew it wasn't "right." ANYWAYS! I'm rambling. LIke I said, great post!!
Thanks so much!
My wife works really hard writing these, and I know she really appreciates comments like these.
I learn so much from her...before Noah was born the only thing I knew about Down syndrom was what I learned from Corky from that old show, "Life Goes On"...ha,ha..
On the tongue thing... it's interesting how sensitive I've become to people talking about it all the time (or at least it seems to me.) Almost everyone we meet who doesn't have a child with Ds will say, "awwww..look at that cute little tongue," "wow...he just like to let that little tongue hang out, doesn't he," etc...
I go easy on them, since I know they don't know better. And I'm pretty sure I'd said the same thing about 7 months ago!
I've learned a lot of lessons from this little boy! :)
My grandson has a tongue that constantly protrudes. He doesn't have Down 's Syndrome. His parents have taken him to their pediatricians and ENT and they just say he has a large tongue and will grow into it. He is almost three now with no change. I worry so much about him. Any suggestions?
Hey grandma..My daughter is a DS case ,she's now 7 yrs old.She had a tongue protrusion when she was a baby but her speech therapiest once told me to simply push it in. After a while it worked perfect.. Thanx to her & to God . You can give it a try..
I have been googling like crazy and came across this blog. My sister in law who lives in another state sends us pictures of her newborn very often. We also welcomed a baby in the world 10 days prior to her. Her little boy was 8 weeks early. Since he was born I have noticed what I believe to be physical charecteristics of Down's. I was waiting to hear if anything has come up during his visits with his pediatrician, but so far nothing.
I don't want to overstep my boundaries, but I also feel the need to say something because of try possible underlying health concerns.
My oldest is affected by autism and I remember when a friend of mine brought the issue up. It wasn't easy. Three years later I brought the autism issue up with my brother who's son was diagnosed after I voiced my concerns and that was a situation of anger and hurt feelings that I don't want to begin again.
I know if I move forward with this then I need to tread lightly. I was wondering if you could email me and I could share the pictures that point to my concerns and tell me what you think.
Hope to hear from you
You are OK just need to keep speaking your mind kids that are born with a disability need help not a parent in denial
I'm sorry I am Bill s wife and if I found out that I was pregnant with a child with any type of disability abortion is hard but at the tip of my list
Sry my name is Kathy Bill is my husband post past two comments
If you haven't aborted don't do it
unsure why you would make this comment on this blog -where so many parents focus on the love they have for their children with ds
Almond shaped eyes are dominant in our family, as are curved pinky fingers in my hubby and my boys. My daughter just has the almond shaped eyes. On just about all of the characteristics many of them occur in some of my family members. He does have the Simian crease. I was 39 when he was born and the nurses wondered how old I was, I guess be cause of their suspicion that he had DS. I told them my age and asked what it was to them. I always knew that I was in a high risk category. My doctor was really nice to me because he encouraged me to have more children. I didn't detect movement until I was about 6 months along. I think that must have been due to low tone too. I am rambling too.
We enjoy your comments. There's no such thing as "rambling" on this blog. :)
It also sounds like you had a great doctor. So glad to hear that. :)
You are OK just need to keep speaking your mind kids that are born with a disability need help not a parent in denial my wife s friend has 2 kids both with down syndrome they are totally the cutest kids I've ever seen ?
Hi Rick! Does Noah have the sandal gap toes? That was one of Ellie's big features at birth (along with the eyes and hypotonia) and even though I think her feet are PERFECT for flip flops, Ellie disagrees. Great, informational post.
Look at the picture for hypotonia and the label on the clear basket you can see Noah's sandal gap toes imprinted on there :) Pretty cute huh?
I love the toes! Once while in the NICU (my son was there 42 days)...they had to put an IV in his head...well of course I flipped O-U-T!!! But his nurse (who was like another mother to him) wrote me a poem from Nicholas and signed it with his foot prints. I have it framed and on my dresser...I look at it everyday!
I don't know what sandal gap toes are. I think I just figured it out. Timothy's toes were webbed together and he had his toes separated and skin grafts.
Great post, I wish your wife would have been the one presenting us with news our daughter had down syndrome, I remember when Anna was born she was not crying and I kept asking if she was ok and my husband kept commenting on her tongue. :). One of the other characteristics Anna has is the extra skin on the back of the neck. Noah's mom, thank you for all the valuable medical information you are psting, it has really helped me to understand what is going on with my daughters body.
It is my pleasure! I feel there is a common theme among family stories learning about a diagnosis that their doctor's may have not done the best job. I am hoping that I can help the medical community for one celebrate the lives of children with Down syndrome rather than treat it like an illness. Let me know if you have any specific questions you would like answered.
Thank u for the concern.my major problem is ,my DS daughter is playing with her stool.how do I stop her.
Hi I'm not a mum of a child with ds but my auntie who has now passed had ds...and also a close friends son had ds...beautiful beautiful humans they are...I follow a little girl on her blog(mum does it) she is called Matilda peaches...you are a super mum and your explanation of the syndrome is great especially for new parents...well done and Noah is georgous x
I too have a beautiful boy with DS. To say he is the light of our family is an understatement. We discovered he had DS about 10 minutes after he was born. The ob/gyn came and put her hand on my arm and softly said, "I just want you to know I think he has Down Syndrome." I really appreciated her gentleness. It took me about 5 minutes of blank thought before I realized that it didn't matter at all to me. I had seen his wonderful, short little hand pop out before I saw any of the rest of him and I was hooked. He is 3 years old now and my main struggle has been deciding not to send him to preschool for one more year. He needs me and I need him and we just aren't ready to part from each other, even if it's for a few hours in the morning. He is the only baby I have seen that came out with long, white hair. I call it his halo. His hair is still as white as it was when he was born. He gets a lot of stares when we got out but I know it's because people just can't believe how adorable he is. The clerks at all the stores I shop in know me because of him. If he's isn't with me on rare occasion they always ask where he is. I love it!!
We didn't have a name chosen for him before he was born. We were deciding between two names but couldn't come together. After he came we realized why we couldn't choose a name. He wasn't meant to have either name. He was meant to be named Matthew. It means "gift from God."
what a sweet story! I chose the name Nicholas for my son, it means "warrior"...and I figured coming into this world with a heart defect, and Down syndrome, he would be in for the fight of his life. I used to whisper to him (in the NICU), "if you fight, I'll pray)...we still do it!
Cynthia... What a beautiful story about your precious Matthew. My son is two years old now, he also was born with DS. His name is Mateo, this is Matthew in Spanish! Indeed, both of our boys are gifts from God! Thank you for sharing your story!
We choose to name our grandson Mohammad so that he would be blessed five times a day Ameen
I'm having fun reading your posts...I just ran to get Nic to look at his eyes...I never knew about the "stars"...Nicholas thinks I'm crazy (I was holding his face staring into his eyes). But I didn't see any...maybe because his eyes are brown...who knows. Have you guys ever had people to say your son doesn't "look like he has Downs." I get that often. Nic doesn't have a "strong look" (I hope that makws sense) but the funny thing about my family is that we can pinpoint relatives who have the same "looks" that he has! LOL
This was another great one!! thanks, Abbie! Reuben doesn't have the simian crease! i didn't realize the statistics! 55% WOW i thought it was the other way around! xx
wow!!! very informative!!! alot of this i did not notice when my on was born so now i have to go back and look at his newborn pictures especially the "stars in the eyes" now my question is do they outgrow some of these fetures?? i ask because like you when people commented on his tongue id say that's not cute thats down syndrome. but by the time he was 2months old his tongue stopped hanging out. now i did have a few (actually 2 people) come up to me (on seperate occasions)and ask me when he was 3months old did he have ds and i said yes. their reaction were as different as night and day!!! one said oh my you are so blessed!!! you have no idea of the joy and love you will recieve from this lil guy!! (by that time i was already finding out) the other lady said (as she was holding him)oh no!! im so sorry and she started to cry!!! i was like really?? why are you sorry?? im not!!! she said life is going to b so difficult for you if it isnt already!!! i said well anything worth having or doing is difficult so whats your point?? she was schocked at my answer but i didnt care. needles to say i see this lady all the time and she is amazed at how well he is doing. i asked her just a few weeks ago are you still sorry?? it just goes to show that when people have the wrong information they will say anything. keep up the great work and give Noah a big hug for me!! :)
Thank you for this, it was fabulous. We knew before Oliver was born that he had DS, and we knew he had a heart defect that would require surgery. I wish this site would have been available then. But Oliver is few months older then Noah. It was amazing when people finally were able to see Oliver how surprised they were. I am not sure what people expected to see. They fell in love instantly and kept saying how adorable he is, well duh he is adorable! It really put into perspective for me that people do not know or understand Down Syndrome anymore today then they did years ago. But because of the two of you and this site, that will change and has already changed. I wish every family could have an Oliver or Noah, and I know this world would be a better place. We are better people for knowing Oliver, and his sister will be a better person for having this amazing brother and what he teaches us every single day. Thank you both for so much! You are doing amazing things, I hope you realize how much this site means to us parents of these kids. We needed a place to share our kids and brag. No judgement, just complete understanding. Thank you so much.
Oliver's Mom (Beth Sheehan)
The first time I was asked if my son had Ds, I was very happy. I had gotten so used to people saying (after I told them): "He must have a mild case because he barely looks like it."
I was glad when someone saw his beautiful almond-shaped eyes, cute little tongue poking out, and constant cuddling!
I wonder if it's just from years of being around children with DS, but when I saw the above pictures, it was very obvious to me. And yes, kids (and adults) with DS are some of the CUTEST I have ever known! My daughter's syndrome is different, but it does have definite physical characteristics that most often go with it. She, too, is a super cute bug!
I think that was the purpose of the pictures, to point out the physical characteristics of Down syndrome. :)
Do you work with children with Down syndrome?