Jun 242014

The science of Phrenology claims that the personality and mentality of a human being can be deduced from the overall shape of the head, and the exact look of the facial features. Scientists have claimed for decades that Phrenology is not a legitimate scientific discipline.

The news article reprinted below proves Phrenology is a legitimate scientific discipline in all but name. The story details how scientists have discovered that specific facial looks are associated with certain genetic conditions, which themselves are associated with particular personality and mental characteristics. Which is exactly what Phrenology claims.

Even if one were to argue that Phrenology only applied to the genetic conditions described below, instead of applying to any and all heads, the story proves the basic claims of Phrenology are true.


Doctors can now diagnose extremely rare genetic conditions simply using a family photo.

This is thanks to computer software that can diagnose rare genetic diseases from snaps in just a few hours.

The software, developed at the Universities of Edinburgh and Oxford, scans ordinary photographs of patients’ faces using facial recognition technology – similar to that used by Facebook.


Many genetic conditions are associated with changes in facial appearance. Image above shows the typical distinct facial features of people with the following conditions (top L-R): Angelman syndrome, Apert, Cornelia de Lange, Down’s syndrome (bottom L-R) Fragile X, Progeria, Treacher Collins, Williams-Beuren syndrome

This builds a description of the structure of the face by identifying corners of eyes, the nose, the mouth and other features.

Many genetic conditions such as Down’s syndrome and Angelman syndrome are associated with changes in facial appearance.

These occur because of the large number of genes that are involved in the development of the face and skull as a baby grows in the womb.

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Scanning photos of different individuals who have the same genetic condition can identify distinctive facial traits that are associated with that particular disorder.

The approach works even in very rare disorders that affect only a few people in the world.

While genetic disorders are each individually rare, collectively these conditions are thought to affect one person in 17.

Of these, a third may have symptoms that greatly reduce quality of life. However, most people fail to receive a genetic diagnosis.
Genetic disorders are each individually rare, but collectively these conditions affect one person in 17. (Image shows a DNA molecule)

Genetic disorders are each individually rare, but collectively these conditions affect one person in 17. (Image shows a DNA molecule)

Lead researcher Dr Christoffer Nellåker, of the MRC Functional Genomics Unit at the University of Oxford, said: ‘A diagnosis of a rare genetic disorder can be a very important step.

‘It can provide parents with some certainty and help with genetic counselling on risks for other children or how likely a condition is to be passed on.’

He added: ‘A diagnosis can also improve estimates of how the disease might progress, or show which symptoms are caused by the genetic disorder and which are caused by other clinical issues that can be treated.’

The team who developed the app say doctors should one day be able to take a smartphone picture of a patient and run the computer analysis to quickly find out which genetic disorder the person might have.

This will be particularly helpful in countries without easy access to genetic tests.

The programme itself was developed by software engineers at Oxford University.

Experts from the Medical Research Council Institute of Genetics and Molecular Medicine at Edinburgh then provided guidance on the clinical images used to develop the software.

Professor David FitzPatrick, of the Institute, said: ‘Thousands of babies are born each year in the UK with errors in their genetic makeup which mean that they do not develop normally.

‘Getting to a firm diagnosis as quickly as possible is very important but the extremely large number of possible disorders makes this very challenging.

‘This technology will help doctors to pick up extremely rare disorders and may be able to identify new conditions.

‘It brings hope to those families living without a diagnosis and the prospect of information and tailored support to help them face the future.’

The findings are reported in the journal eLife.




This affects the nervous system, causing severe physical and intellectual disability, with symptoms becoming noticeable from early childhood.

Many children with Angelman syndrome will have an abnormally small head by the age of two. Some will also have the following features: a flattened skull at the back; a tendency to stick out the tongue; a prominent chin; a wide mouth and wide-spaced teeth.


Apert syndrome is a genetic disorder where some of the skull bones fuse prematurely. This in turn affects the shape of the head and face.

The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems.


This is a a developmental disorder that causes, among other things, slow growth before and after birth and distinctive facial features.

The facial differences include arched eyebrows that often grow together in the middle; long eyelashes; low-set ears; small, widely spaced teeth; a small, upturned nose.


This genetic condition typically causes some level of learning disability and a range of physical features including: a small nose and flat nasal bridge; a small mouth; eyes that slant upwards and outwards.


Fragile X is the most common known cause of inherited learning disability, affecting one in 4,000 boys and one in 6,000 girls. Physical features may include large ears and a long face.


An extremely rare genetic disease of childhood characterized by dramatic, premature aging.

Those with it develop a distinctive appearance: baldness; aged-looking skin; a pinched nose; a small face and jaw relative to head size.


This affects the development of bones and other tissues of the face. Most people with it have underdeveloped facial bones – cheek bones in particular – and a very small chin and jaw.


A development disorder that often causes learning problems and anxiety.

Distinctive facial features include a broad forehead, short nose with a broad tip, full cheeks, wide mouth with full lip.

  One Response to “Family photo could soon diagnose some of the rarest genetic diseases in just a few hours”

  1. Happeh!

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