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Quick reference medical handouts used by Pediatric offices


My son just turned 5 and has been delayed since birth. We have done all to rule everything out including Genetics Testing. They could not find anything that "stood out" but found just a few minor imperfections that they could only suggest was possible NOONAN's SYNDROME. I cannot find this on your site. I would like to know exactly what it is, all the signs, and most importantly, all the future health risks since he will be having eye muscle surgery in two weeks.
    

Thank you for your question.

Noonan Syndrome is a condition affecting children which can cause heart defects and alter physical development. Often called a "hidden" condition, affected children may have no obvious signs to the casual onlooker, but the problems can be many and complex. It is believed that 1 in 2,000 children worldwide are born with this condition and its exact cause is unknown. Once affected, their is a 50/50 chance of passing the gene on to one or more of their children.

Not all Noonan Syndrome children will have all of the features listed below. These characteristics tend to become They tend less obvious with maturity:

  • Facial features :Wide spaced eyes (Hypertelorism), drooping eyelids (ptosis), and prominent down slanting eyes. Many of these children also have visual problems, most commonly eye muscle problems, as in your child. . A flat broad nose bridge contributes to poor nose breathing. Teething is delayed and there is an increased occurrence of dental cavities. There is a high incidence of fluid behind the ear leading to mild hearing loss.
  • The neck is short with excess skin at the back of the neck with webbing.
  • Skeletal System: The chest is often elevated chest or the breast bone is depressed. Poor muscle tone and hyperextension of some joints are common features and scoliosis (curvature of the spine) is sometimes seen.
  • Heart: A high proportion of children with Noonan Syndrome have an abnormal echocardiogram. The most common heart abnormalities are: A narrowing and sometimes a malformation of the valve that takes the blood from the heart to the lungs (pulmonary value stenosis). Thickening of the heart muscles (hypertrophic cardiomyopathy) with possible disorganization of the muscle cells. A hole between the two upper chambers of the heart (Atrial Septal Defect or a hole between the two lower chambers of the heart (ventricular septal defect).
  • Genitourinary tract: A high proportion of boys need surgical intervention for undescended testes.
  • Blood: Abnormal Clotting Factors Deficiencies are common causing a tendency to bruise easily. It is essential that these children be properly treated prior to surgery.
  • Growth and Physical Development: ¬†Feeding Difficulties and Failure to thrive. Shortness of Stature A large proportion are at the lower end of the growth scale. Delayed Puberty A 3-4 year delay is quite common in both males and females. Most females have a normal cycle A delayed growth spurt in late teens or early twenties may occur.
  • Intelligence: 90% of Noonan Syndrome children are in normal schools. Some have learning disabilities in specific areas. Delayed Speech-Delayed Language Speech therapy is often necessary for these children. Social Development Due to their delayed puberty and short stature, some children can have emotional difficulties during adolescence. It is believed that one in 1000 children worldwide are born with this condition.

In summary, we would recommend that your child have a thorough heart evaluation prior to surgery, and have his blood clotting factors checked as well.Let us know how he does.

 

As a reminder, this information should not be relied on as medical advice and is not intended to replace the advice of your child’s pediatrician. Please read our full disclaimer.

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