Facial photos may aid disorder diagnosis

RARE genetic disorders may leave an imprint on a child’s face that can be used to aid diagnosis, new research has shown.

Scientists have developed computer software designed to spot subtle variations in head shape, eye position, and characteristics of a patient’s nose, jaw and ears.

By comparing these features with those of an average healthy child of the same age, the programme can make a diagnosis with an accuracy of 90%.

Of the 5,000 or so known genetic disorders, around 700 are believed to affect the face.

Thirty of these have so far been investigated by researchers at University College London’s Institute of Child Health.

The scientists now feel sufficiently confident to use the software to identify 10 conditions in a clinical setting.

A trial is being set up at London’s Great Ormond Street children’s hospital which will compare the diagnostic success rate of physicians using the system with those wholly relying on their own knowledge and experience.

In Victorian times there was a vogue for phrenology — the art of recognising personality traits, especially criminal ones, from the shape of the head.

Professor Peter Hammond, who heads the university’s team, rejects any connection between the new facial diagnosis technique and phrenology.

“That’s something that belongs in the Victorian era,” he said.

But he acknowledged that genes affecting the face may also influence the brain and therefore behaviour.

While most people easily recognise the distinct features of someone with Down’s syndrome, the facial characteristics associated with many other genetic disorders can be much harder to spot. Typically, they cause a host of problems affecting internal organs, bone structure and mental development.

Examples include Williams syndrome, which affects one in 7,500 children and affects the heart and blood vessels, kidneys, muscles and skeleton, and causes learning difficulties.

Children with the syndrome have narrower heads, shorter, more turned-up noses, and smaller jaws than children who do not. They also have a fullness to the eyelids and lower lip.

Jacobsen syndrome, which affects one in 100,000 children and causes heart defects, recurrent infections and slow growth, is distinguished by eyes that are set further apart than usual.

Other disorders being looked at include Cornelia de Lange, Noonan, Smith-Magenis and Velocardiofacial syndromes.

A facial misalignment has also been identified in autistic children. An enlarged right frontal part of the brain typically causes that side of the skull to be swollen — but the effect is too slight to see with the naked eye.

Prof Hammond, will talk about his work today at the British Association Festival of Science at the University of York. He said: “A lot of genes do a lot of different things in the body. Some may affect your liver or lungs, and bone structure, but may also contribute to the face. Genes that affect the face may also affect other parts of the body. It’s a complex picture.”

To assimilate the data needed to produce the software, a large library of 3D images of children and adults sharing the same genetic conditions had to be collected from around the world. Prof Hammond took his twin-lens 3D camera to 10 countries, including Patagonia, where some of the indigenous people have a genetic susceptibility to cleft palate.

The facial diagnosis is intended to act as a starting point. “Delay in diagnosis causes anxiety to parents who need advice on risks to future children,” he said. “Moreover, delay may defer important medical treatment or behavioural training that could improve the prognosis for affected children.”