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!