Genetic Testing

On (Wednesday 25th June 2025) I received a letter in regards to further results from my Genetic Testing, This time is goes into further details about my heart condition stating how it has been caused. I have now been Diagnosed with the following condition "Noonan Syndrome"

I made a Subject Access Request a few years ago for all of my medical history and there was a mention of this Noonan Syndrome but also stated I did not have the condition. Now it has been fully confirmed that I do have this condition and also explains a lot of the other features and appearances I have, I have added some information relating to this condition below, I have added a star Icon on the ones I have.

Noonan Syndrome

Noonan syndrome is a genetic disorder that affects multiple parts of the body, characterized by distinctive facial features, heart defects, short stature, and developmental delays. It is a relatively common condition, often inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is needed for the individual to be affected.

Distinctive Facial Features:

These can include a broad forehead, drooping eyelids, a wide-set or downward-slanting eyes, low-set ears, a short neck, and a small lower jaw.

**Heart Defects:**

Congenital heart defects, such as pulmonary stenosis or hypertrophic cardiomyopathy, are common.

Short Stature:

Individuals with Noonan syndrome may have short stature, although some may have normal height.

Developmental Delays:

Some individuals may experience developmental delays, including speech delays, but many have normal intelligence.

Other Features:

These can include skeletal malformations, bleeding problems, lymphoedema (swelling due to lymph fluid build up), and undescended testicles in males.

Noonan syndrome, a genetic disorder, has been linked to an increased risk of social difficulties and features of Autism Spectrum Disorder (ASD).