Cornelia de Lange Syndrome Questions

Hirschsprung disease is because of the absence of neurons in the rectum and colon. As you have undergone surgery ,it is better to seek the opinion of a gastroenterological surgeon.

Congenital deformities of spine are different and muscular dystrophies are different. They are not same.

Hi, Skin hyperpigmentation,
get nausea ,vomiting ,constipation and abdonal pain
fever, syncope,convulsions ,hyponatremia etc
so consult endocrinologist.

The best time to get a scan that rules out congenital anamoly in foetus is 18 -24 weeks scan .Any scan done after that might have high chance of missing anamolies in the baby. That is what they have mentioned. As long as the growth of the baby in the scan you have done is adequate do not worry about the comment.