Hi, this is Tom, and in this episode I'm going to be going through Noonan Syndrome.

And you can find notes at 0.0.5.com slash noonan and in the zero to finals pediatrics book.

So let's jump straight in.

Noonin syndrome can be caused by mutations in various genes. There's no one single genetic cause.

Most cases are autosomal dominant or due to a sporadic de novo mutation.

Let's talk about the features.

There is variation in the signs and symptoms of Noonan syndrome,

depending on the underlying cause.

Typical features include a short stature,

a webbed neck,

a broad forehead,

a small chin and jaw, which is called micronathia,

Tosis, which is eyelid drooping, hypertelerism, which is widely spaced eyes,

a high-arched palate in the mouth, downward sloping palpable fissures,

which are the gaps between the lower and upper eyelid,

essentially the opening of the eye,

is sloped downwards,

low-set ears,

and widely spaced nipples.

A tom tip for you, the two key causes of a webbed neck are Turner

Syndrome and Noonan Syndrome. These are the ones to remember. Let's go through the associated

conditions. Nunan syndrome is associated with various conditions

...