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 Down syndrome.

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

you can follow along at zero definals.com slash downs

or in the genetic conditions section of the Zero to Fin finals pediatrics book. So let's get straight

into it. Down syndrome is caused by three copies of chromosome 21. It's also called trisomy 21.

It gives characteristic dysmorphic features and it has a number of associated conditions.

The extent to which a person is affected and the associated conditions they have

will vary between individuals who have Down syndrome.

The dysmorphic features that you may find in somebody who has Down syndrome are hypotonia,

which is reduced muscle tone, breakicephaly, which is a small head with a flat back,

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

prominent epicantic folds, upward sloping palpable fissures, and a single palmer crease.

Epicanthic folds are the folds of skin overlying the medial portion of the eye and the eyelid.

The palpable fissures are the gaps between the lower and the upper eyelid.

There's a few complications that are associated with Down syndrome.

And these are learning disability, recurrent otitis media,

deafness, particularly eustachian tube abnormalities which lead to glue ear and conductive hearing loss.

Visual problems such as myopia, strabismus and cataracts.

Hypothyroidism occurs in about 10 to 20% of patients with Down syndrome.

Cardiac defects affect about one in three patients with Down syndrome. Cardiac defects affect about 1 in 3 patients with Down syndrome,

particularly atrial septal defects, ventricular septal defects, patent ductus arteriosis, and

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