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

And you can find notes at zero to finals.com slash Prada dash Willie and in the zero to finals

pediatrics book. I'd also recommend checking out the zero to finals finals revision

book, which is available at zero to finals shop.com, which is fully illustrated in color and covers

everything you need for the foundations for your finals revision. So let's jump straight in.

Prada Willie syndrome is a genetic condition caused by loss of function of the genes in the 15Q11-Q13 region of the paternally inherited

copy of chromosome 15.

Essentially, there's a defect in a section of chromosome 15 that is inherited from the father.

This may be due to a deletion of this portion of the chromosome,

or when both copies of chromosome 15 are inherited from the mother.

Let's go through the features. The features of Prada Willie Syndrome include

hypotonia or poor muscle tone in infancy, hyperphagia, which is an insatiable hunger, which appears later in childhood,

and leads to obesity through excessive eating and never feeling satisfied, mild to moderate

learning disability, hypopigmentation with fair skin and fair hair,

bitemporal narrowing, which means a reduced distance between the temples leading to a narrow forehead,

almond-shaped eyes,

strabismus or squint, which is where the eyes don't line up with each other,

a thin upper lip, a downturned mouth, short stature, small hands, hypogonadism,

which is underfunctioning of the testicles or the ovaries,

and mental health problems, for example, anxiety

and compulsive behaviours. A tom tip for you, the memorable feature of Prada Willy syndrome

is the insatiable hunger. However, as an infant, feeding can be a challenge and very difficult due to hypotonia and a poor suck.

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