Diagnosis by Facial Analysis – An Exciting Advance for Noonan Syndrome

Brett | Apr. 9, 2017


Noonan Syndrome (NS) like most rare diseases can be difficult to diagnose. Sadly at present 50% of individuals with NS are misdiagnosed or undiagnosed. Thankfully an exciting new technology may change these statistics!

Researchers at the National Human Genome Research Institute (NHGRI) have successfully used facial recognition software to diagnose rare diseases such as DiGeorge Syndrome (which affects between 1:3000 and 1:6000 individuals) and Down Syndrome (with an incidence of 1:700). The successful rate of diagnosis has been as high as 96% using the facial analysis software. The team at NHGRI are now turning their focus towards Noonan Syndrome.

Facial recognition software is a revolutionary aspect of rare disease diagnosis. It would allow clinicians to make accurate diagnosis of rare diseases such as Noonan Syndrome instantly just by taking a photo of the patient. Clinical diagnosis by facial features alone is inherently difficult particularly across diverse ethnic groups but this software is exceptionally accurate in making successful diagnoses across multiple ethnicities and cultures.

This technology will also facilitate early diagnosis which is of particular importance in Noonan Syndrome where the average age of diagnosis is 8 or 9 years of age. Late diagnosis means children with NS often miss out on vital early intervention which can reduce the severity of speech, motor and intellectual deficits.


The NSAA is heloing the team at NHGRI as they need individuals with NS from Non-European descent to contribute their image to the study. If you or anyone you know has NS and is of Non-European lineage please print and sign the consent and information forms (links are below) and attach a photo of your face. Completed forms with attached photos can be sent to brettzani@noonansyndrome.com.au or paul.kruszka@nih.gov

Your contribution may help this revolutionary clinical tool become a reality. Please reply as soon as possible as research and journal publication dates are drawing closer.

If you wish to read more about this technology it was featured by Science Daily here: https://www.sciencedaily.com/releases/2017/03/170324104956.htm

Consent Form: Open here

Information Sheet: Open here

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