Hi! I'm Holly. Our daughter, Autumn,age 4 1/2, was diagnosed a couple of years ago.
The lack of case studies is frustrating. We have very little information to help us know what to expect.
So far, she has been seen by specialists for orthopedics, urology, cardiology, neuro, hearing & something else, but I can't remember.
She was seen by genetics once, for diagnosis, but hasn't been seen by them since.
She is very tiny. We celebrated this spring when she finally made it onto the growth chart for height. lol Until then, she was always -3 to -5% for height. :-)
She is in special ed. & gets speech therapy, pt & ot.
I wish I had more info on the actual genetics to give you an outlook, but her geneticist had only one other case study for comparison. There isn't much to go on.