In January 2023, Izzy was referred to an orthopedic surgeon. Sterling and I had noticed something was “off” with her left shoulder thinking it could possibly be dislocated, but I could tell by feeling her shoulders and shoulder blades that the structure was different. Honestly, this wasn’t the first time I had noticed this “hump” or “point” when she moved certain ways, but she never seemed to be in pain. Now, it was becoming more prominent, and I was wondering if it had something to do with 22q, which is why we sought treatment. After taking Izzy to the pediatrician, she also wasn’t sure if it was popped out of place or if something regarding her growth needed to be assessed ~ hence, orthopedics.
Within about 4 seconds of the orthopedic surgeon looking at Izzy, he knew exactly what was going on and diagnosed her with a congenital condition called Sprengel’s deformity. Sprengel’s deformity is a rare skeletal abnormality where one shoulder blade sits higher on the back than the other due to failure of complete descent during embryonic development. It was very interesting to learn that Izzy’s x-rays from inpatient show the deformity, but because we didn’t have an orthopedic surgeon at the time, he said it’s common that no one else would’ve caught it. While Izzy’s case has become more noticeable as she’s grown, we are very lucky because she still seems to have full range of motion, which is often times affected by Sprengel’s. The doctor told us that Izzy’s case is mild, just something to keep an eye on, and he confirmed that she is not in pain, which is wonderful. As he was explaining everything to us, I was very relieved to hear that surgery would not be needed for her because he described Sprengel’s deformity surgery as “very complicated” and “hard to move the wing down to normal placement”. He did mention the possibility of OT, but does not feel it is needed at this time. He also mentioned that this condition is often times associated with having another syndrome, but alas, we will never know if hers is related to 22q or not… although my gut tells me it is. We will follow up with ortho as needed/if needed.