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

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

I'm also really excited to announce there's the finals revision book, which you can get at zero to finals shop.com

and this is a color fully illustrated book of really concise notes and it covers everything so

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for your final exams in one concise ringbound book

that's really easy to learn from, really easy to study from. And it's perfectly paired with the

zero to finals finals revision flashcards, which again cover everything, pediatrics, obs and

gyny, psychiatry, medicine surgery. And these flashcards, they have questions and a case on

one side with answers on the other. Again, you can find those at zero to finals shop.com. But back to this

episode for now, let's jump straight in. Down syndrome is caused by an extra copy of chromosome 21.

It's also called trisomy 21, meaning there are three copies of chromosome 21.

It results in characteristic dysmorphic features, and it predisposes patients to various complications.

Let's start by going through the dysmorphic features.

Features seen in children with Down syndrome include hypotonia or reduced muscle tone,

brachycephaly, which is a short distance between the front and the back of the skull,

and a flat occipate at the back of the skull,

short neck, short stature, a flattened face and flattened nose,

prominent epicanthic folds, and the epicanthic folds are the folds of skin overlying the medial

portion of the eye and the eyelid. Upward sloping palpable fissures, and the palpable

fissures are the gaps between the lower and the upper eyelid, meaning the opening of the eye is sloping upwards, which makes

the outer part of the eye higher than the inner part of the eye, as though the eyes have

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