Hello and welcome to the Zero to Finals podcast.

My name is Tom and in this episode I'm going to be talking to you about Noonan Syndrome.

If you want to follow along with written notes on this topic,

you can follow along at zero tofinals.com slash noonan syndrome

or in the genetic conditions section of the zero to finals pediatrics book.

So let's get straight into it.

Nunan syndrome is a genetic condition and there are a number of different genes that can cause

Nunan syndrome. The majority of cases are inherited in an autosomal dominant way.

There are a variety of signs and symptoms of Nunes syndrome which depend on the underlying cause. Let's talk about some of the features,

and these include short stature, broad forehead, downward sloping eyes with toosis or drooping eyelids,

hypertelerism, which is a wide space between the eyes,

prominent nasalabial folds,

low set ears, webbed neck and widely spaced nipples.

There are several associated conditions that you may find with Noonan syndrome.

Congenital heart disease, particularly pulmonary stenosis, hypertrophic cardiomyopathy, and atal

septal defects.

Crypto-orchidism, which is undescended testes, and this can lead to

infertility. Fertility is usually normal in women. Learning disability, bleeding disorders, lymphedema,

and an increased risk of leukemia and neuroblastoma, which is a type of brain tumor.

Finally, let's talk about management. There's no treatment for the underlying genetic defect that

causes NUNN syndrome. Management is supportive with involvement of the multidisciplinary team.

The main complication is congenital heart disease

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