Monday, January 23, 2012

How can I tell if my newborn has Down syndrome?

According to kidshealth.org, newborns with Down syndrome have "flat facial profile, an upward slant to the eyes, small ears, and a protruding tongue................low muscle tone (called hypotonia)

downsyn.com says,
  • the eyes have an upward and outward slant
  • there is a fold of skin on the inner side of the eye (epicanthal fold)
  • the eye slit is narrow and short
  • small, white patches can be seen on the edge of the iris
  • the face has a flat appearance
  • the head is smaller than average
  • the soft spots on the head (fontanels) are larger than normal because the baby is growing more slowly
  • the ears are smaller and lower-set
  • the mouth is small and the lips are thin which leads to the tongue sticking out because the inside of the mouth is smaller
  • the neck appears slightly short and loose folds of skin are seen at the back and sides (these go away as the baby grows)
  • the legs and arms are short in relation to the body
  • the hands are broad and flat with short fingers, the little finger slants inward, and there is a single crease across the palm
  • the feet are broad with short toes and there is a larger space than normal between the big toe and the other toes
  • there is poor muscle tone (hypotonia) and loose-jointedness (hyperflexibility)
  • reflexes tend to be weaker and the cry is weak

Kamdyn had/has some of these, and others she did not.  She does not have a small head, loose skin behind the neck, broad hands, short fingers, bent pinkie, crease on the palm (simian crease), broad feet, short toes, or extra space between the big toe and other toes (sandal gap).  I do notice now that her shirts always seem shorter, and I have to roll them up, but this was not noticeable as a newborn.  And I tell you all of the features that she did not have to demonstrate the point that not all babies/children/adults with Down syndrome have exactly the same features.  They don't all have the same personality either. 

They also do not have all of the health issues that you will read about if you research Down syndrome.  Some babies with Down syndrome will have some of those health issues, others will have nothing that isn't common for any baby to have.  Every child, even ones with Down syndrome, are unique. 

Ok, so which features did Kamdyn have as a newborn?

* Her soft spots (fontanels) are larger.  At almost 2, Kamdyn still has the soft spot on the top of her head, but she is also around the size of a 9-12 month old.  It will close as she grows.

*Kamdyn's ears are smaller and lower-set.   I do not think this is noticeable now, but when Kamdyn was first born, this was the first feature that I noticed.  As a newborn, the skin on the top of her ears was also slightly turned down. 





The following picture was taken when she was about 7 months old, and the skin at the top isn't turned down anymore. 

If you look at where your ears are on your face, you will notice that your ears are even with your eyes.  This is why glasses fit easily on your face.  A person with Down syndrome, however, will often have ears that are set slightly lower on their head, like Kamdyn has. 


* Her tongue stuck out more than I remembered my other babies.

It wasn't like her entire tongue hung out like she was panting, but her tongue sat at the edge of her mouth like this picture.  This is also due to low muscle tone.

The picture above was the first picture we ever took of Kamdyn.

*Kamdyn's eyes have an upward and outward slant.  And are absolutely beautiful, if you ask me.


*Kamdyn has a fold of skin on the inner side of the eye (epicanthal fold)

The inside corner of her eyes has a fold of skin.  This is also an Asian feature, and I have heard mothers say that they were asked by the doctor if they had Asian decent in their family when their child with Down syndrome was born.


*The bridge of Kamdyn's nose is flat. 

I actually love this.  That little spot on the bridge of her nose is the sweet spot.  It just begs to be kissed.


*Kamdyn had a weak cry, but so did my first daughter.  They both sounded like kittens when they cried.

*Kamdyn also had trouble maintaining her temperature and sugar levels right after birth.  Very common in newborns.



*Kamdyn was jaundiced for a couple of weeks after she was born.  This is also very common in newborns.  Almost all newborns have some degree of jaundice, but Kamdyn's was a little more, which required billi lights for about 36 hours.




*Kamdyn had a heart murmur.

A heart murmur means there is a hole in the heart.  All babies, Down syndrome or not,  are born with a hole in their heart that closes shortly after birth.  Some babies with Down syndrome, like Kamdyn, are born with an additional hole in their heart.  Kamdyn, in fact, was born with a large hole between her ventricles, and a small hole between her atrium.  Thankfully, hers are closing on their own, without surgical intervention.

*Spots on the iris of the eye, Brushfield spots.  I do not fully understand this one, but I think it is the reason Kamdyn's eyes look kind of marble-y and absolutely breathtaking if you ask me.


Those are some common physical features.  If you suspect that your baby has Down syndrome, the only way to find out for sure is a blood test called a karyotype.  Most of the time, the doctors and nurses in the hospital will suggest this test if they suspect the baby has Down syndrome.  I have heard of situations, where a baby will go months before being diagnosed, but this doesn't usually happen. 

If your baby does have Down syndrome, first, breathe.  It will be ok.  Give yourself the time you need to accept the diagnosis.  Look around on the Internet for the hundreds of great blogs that show what day-to-day life is like.  I guarantee you will find a bunch of people who are head-over-heels in love with their child with Down syndrome, just like they are with their other kids, and this diagnosis is not the end of their life and happiness, but only the beginning.

 Congratulations and welcome.

30 comments:

  1. After Hailey was diagnosed, my sister-in-law noticed that she has as many physical characteristics of DS that Hailey has!

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  2. One of the FIRST questions the on-call pedi asked me when he came around to our room was "is her father Asian?" Of course, I had NO idea where he was going with that line of questioning...little did I know it was the first step on this journey.

    Ev DOES have sandal gap, short wide hands, stubby fingers. She does not have the single palmer's crease. She has epicanthal folds and a flatter nose (which I agree, BEGS to be kissed).
    She was jaundiced as well, but does not have any heart issues or any health issues (as of right now). Just goes to show you how alike and yet different our kiddos are!

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  3. That's funny. I've never thought about which ones I have.

    Amanda- it is fascinating how that extra chromosome can bring so many differences and similarities.

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  4. That was the first question Brad and I were asked "What is the nationality of your last name?" Our last name is Chillihitzia and my husband does look Asian, but he is Native American...Then they went on to ask if Russell looked like our other children...That question hurt and that's when I knew something was up.

    I first knew something was wrong when I saw the Dr. examining Russell....When she measured the distance between his eyes and his ears...I will never forget that moment. Then as they went down the list with me I was so scared I found a way to brush off any feature they mentioned...But I could not explain away his floppiness and being so unresponsive and lifeless...sigh...It hurts to think back to that time.

    Anyway great post! I like how you added pictures in with it. This post would be helpful to new Moms and family members when trying to understand how they diagnoses Ds after birth.

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  5. beautiful eyes! Reagan has the brushfield spots too, but you can't really see them since she has brown eyes. And her eyes look just like her sisters since Reagan IS half asian :)

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  6. Excellent post! Very informative and I LOVE the pictures. Ellie just had the eyes, sandal gap, short fingers, and low muscle tone.

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  7. Your daughter is beautiful! Love all of the pictures. : )

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  8. thanks so much for stopping in to cheer on violet! it means so very much! xoxox

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  9. I liked seeing all the pictures of Kamdyn as a baby! I need to make a list of all of Ben's Ds characteristics but I do know that I have some myself. I have a single crease on one of my palms and my pinkies bend in.

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  10. Thank you for the pictures...they give a good idea of what to look for on an already wrinkly puffy newborn. She does have STUNNING eyes, very beautiful!

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  11. simply beautiful she is .....

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  12. Thanks -- An interesting blog, and the most beautiful baby!

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  13. Great post very informative. Your daughter is beautiful!

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  14. Your baby is beautiful. Love her. She will fill your heart with so much love and blessings so abundant that overflow your heart and home. You will be in my prayers. She will love you till the ends of this place and thru the unknown. Keep your head UP, if you don't like what one doctor says....find a new one. My brother,cousin,nephew and neighbor have various disabilities. Don't let them tell you anything you don't want to hear. The little boy next door has down syndrome, and Thanks to therapy and determination of his mother,most traits including facial,go unnoticed due to his superb development from therapy. My husbands autistic. My brother, cerebral palsy, cousin, cerebral palsy, down, dwarf.... Different families,different opinions. I've been exposed to these CHALLENGED children AND adults my whole life. Don't accept it as a disability. And this challenge is in no way your fault. We're hard wired to over come our challenges and obstacles. It WILL be difficult at times,with the discouraging feelings of a closed door or dead end. Don't let this discourage you! Your child IS. Specia. Not in a negative or"everybody is special"kind of way,but in a sense that you both will learn and grow everyday,learning from each other,growing from what you each teach one another. I know your a strong woman,otherwise you wouldn't have been given this challenge. You and your beautiful daughter will grow And learn EVERYDAY. everyday will be a new journey,leading to a new discovery,and if you haven't already figured it out yourself(Idk how old this thread is) you WILL see what a blessing this child truly is in your life. In her smile,achievements and every day,more and more with the greatest gift any child can give. Unconditional love,growth,recognition of achievements. You and your beautiful daughter will be in the thoughts and prayers of my self and husband. Many blessings on your family and home, God Bless you and yours.

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  15. Wow, thank you so much for sharing your experience with DS and those beautiful pictures of your baby. I admit, i fully didnt understand what to look for when I Googled how to detect DS in newborns. This post was by far the most helpful advice I have read, THANK YOU! God bless you and all your beautiful blessings :)

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  16. Excellent write up - thanks for taking the time to do this and help other parents who are embarking on this amazing journey... Needless to say your daughter is a beautiful princess and I wish you all the best for the future!

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  17. My 7 month old has a palmar crease on both hand he has a flat nasal bridge and epicanthal folds also he has a sandle gap he isn't sitting up yet only just starting to roll around but doctors said they aren't going to do bloods because he doesn't look like he has downs and is babbling (dada mama)there is no Asian in our family do u think i am being a panicky mother or is it possible to have all that but no downs ? either way it wouldn't bother me as he is so beautifull and the most happiest baby .

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  18. Anonymous, the only way to know for certain is to do a blood test. Some children do have those physical features without it being Down syndrome. But there is also something called Mosaic Down syndrome, where not all of the cells have an extra chromosome.

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  19. Sorry, I got cut off. All kids with DS are so different, so it's hard to say. But as a mom, I would suggest that you go with your gut.

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  20. our baby also have down syndrome but i have one question that how to treat with the baby?how should mother behave with the baby plz.... solve our query

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    1. It might be hard at the beginning when a mother and father find out that their baby has DS but a mother should love and care for the baby just like she would love and care if the baby didn't have the DS. I believe there is a lot of info and help and support from doctors but please don't be discouraged and just love love and pray for your baby. All babies are precious and gifts from God and they need their mom to just love them the way they are.

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  21. Thank you for your beautiful post and Kamdyn is gorgeous.

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  22. Amazing beautiful. Thank you so much for taking the time. Baby is gorgeous. Very informative God bless you all

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  23. My baby is 3 months old it looks like she has DS 2 people have already asked if she had DS.I'm scared to get her tested.

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    1. If you need someone to talk to, I'd love to : ) You can email lifeisbeautifulkamdyn@gmail.com I'm also on Instagram @lifeisbeautifulblog.

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  24. Kamdyn is gorgeous. Thank you for sharing all with such details! im currently 14 weeks pregnant and I had my 1st trimester ultrasound and the Dr told me that my baby has the "nasal bone missing" the Dr also told me is a high marking for DS. I was just wondering if you were told at any point during your pregnancy something was wrong other than after birth. this is my 6th pregnancy, I am not considering doing the amnio because I am a high risk as it is due to all complications on my previous pregnancies and I don't want to risk anything to go wrong with my baby. I lost a daughter at 20 months of age almost 2 years ago, she was very medically ill. Thank you for the information.

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    1. Congratulations on your pregnancy! I'm very sorry to hear of your loss. I can't even imagine. I did not have any markers picked up during my ultrasounds. Kamdyn was also turned the wrong way, so they couldn't see her heart and missed that she had a heart defect. That probably would have been a good indicator if they had seen it. If you have any other questions or want to look up some resources, feel free to email me or commenting here is fine. Best wishes to you : )

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  25. My Niece has boy/girl twins and I highly suspect that the girl has DS. I don't know how to ask her to get her dd tested without it sounding like an insult. You would think the doctor or pediatrician would pick up on it but not where she lives and with the healthcare she gets. I keep looking over her pictures and know if it were my baby I would get her tested. How would you handle it?

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    1. That's a very hard question. It's hard to know without knowing more details of the situation, like is the mom concerned? Are you close with her, where you could have this type of conversation? With her having twins, if one baby has ds, there will probably come a time that one twin will fall significantly behind in development if she does have ds. I would guess by 5 months old, they would see a difference if not sooner. It's hard to say whether I would say anything or not. If you do, just ask in a very gentle way. Don't use words like there is something wrong with the baby. Say that you see some Down syndrome characteristics in the baby or something along those lines. Good luck with whatever you decide.

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