Thursday, October 15, 2009

Physical Features of Down Syndrome

When Sean was diagnosed with Down syndrome and the doctor pointed out the physical features that led him to believe he had it, I was shocked that these small things added up to something more. They seem like such minor things that it is so interesting that they appear due to an extra chromosome. Sean has several other traits that are not necessarily visible to the eye: his heart defect (ASD), his low tone (also called Hypotonia ) and his slow growth. Here are they things that the doctor saw when he was just three weeks old.

His beautiful face has the classic perfect arched eyebrows (on many kiddos they meet in the center), slightly wider spaced eyes with little nasal bridge to separate them, epicanthic folds on his inner eyelid, Brushfield spots in his irises, and a petite mouth. He hasn't ever had much of an issue with sticking out his tongue, but many kids with Ds do because of low oral tone, breathing difficulty or simply because they have a very small mouth. It is not due to having an overly large tongue.


The second thing the doctor showed me was the simian creases on Sean's palms. Not every child with Ds has this one either or both hands. Some genetically typical people have this feature, too. Sean has it on both hands.





And lastly, the doctor removed Sean's socks to show me his toes. Both of his feet have a Sandal Gap. This is a larger than average space between his first and second toes and often can be seen on an ultrasound.


I love all his beautiful parts!

11 comments:

JennyH said...

He's so cute. I love his face picture.

Me? A Mom? said...

He looks perfect to me. :)

Monica Crumley said...

Sweet post. I love all the parts put together and what they make. Total perfection :-) I'm glad you mentioned small mouth, not overtly large tongue as so many believe.

jane said...

He is beautiful...that first pic is strikingly so! xoxo

Wendy P said...

Ah, he is gorgeous!! And I LOVE our kiddos' feet - love, love, love the cutie toes.

Grrrrndpa said...

Very useful information. I did not know all of these things and I see him every day that I am home--which of course is sort of missing right now.

Heidi said...

The picture of his face is just adorable. He is just so cute!

Raisingarrows said...

Deborah,
He's so beautiful! You are blessed.

I am humbly going to admit to you my ignorance of much of what DS is all about.

I hadn't been here in a long time and noticed from another blog the 31 for 21 and immediately thought of you, knowing you would be doing this.

I am reading and learning. I've already learned so much about your precious Sean the years I've known you, but it really does help to see things written out. I imagine there are similarities to what you feel to what I feel about losing a child...you just wish people knew certain things and knew when to speak and when to just keep their mouths shut. This is a great way to let them know.

Much love,
Amy @ Raising Arrows

Cindy said...

LOVE all those parts!!!! :) :)

Annie @ The House That Jade Built said...

He is adorable - his face picture just melts my heart!

Tiffany said...

I ADORE the brushfield spots!!! Absolutely my favorite thing in the world!! I heard someone call them "stars in their eyes"... And the tiny "jelly bean toes"...more than cute!!