Some features that may exist with this particular syndrome affecting 17p13.3 and the YWHAE gene include: Subtle, unique physical features. However, it may be difficult for someone other than a medical geneticist to recognize them. These features include a prominent forehead, thick eyebrows that may merge in the center (synophrys), full nose tip with a long columella (cartilage between the nostrils), thin upper lip and pointed chin. There may also be larger than average body weight and length/height with minor hand or foot abnormalities. These features may not cause medical problems but may lead health care providers and parents to suspect that the child has an underlying medical condition.
Of those people reported with 17p13.3 duplication syndrome, there is some degree of developmental delay or behavioral problems. These behavioral problems may include autism spectrum disorder or attention deficit hyperactivity disorder.
Not to pick Maeve apart but as her mother I see these particular characteristics: slightly, I mean fractionally, more pronounced forehead then "normal" but not much. She does have a full nose tip and a bit of a pointy chin, thinnish upper lip and she has always been above average in height. She also has foot abnormalities, that I just took as crooked toes, but it is considered a "sandal gap" or larger than normal gap between her first and second toes, as you see in the picture. Oh, also, we all know she has autism.
So there you go, knowledge can empower, it can also be a "damn" kind of moment! No matter what tests are showing she has, she will ALWAYS be my baby, my love, and my world. The same goes for my Jojo too!
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