Highlander Syndrome: What is it? Known Cases, Symptoms, Causes and Treatment

It is a rare disease characterized by a delay in physical development, which makes the person look like a child when in reality, they are an adult.

The physical examination makes the diagnosis since the characteristics are pretty evident.

However, it is not yet known what causes the syndrome. Still, scientists believe that it is due to genetic mutations capable of slowing down the aging process and therefore delaying the characteristic alterations of puberty, for example.

However, it is not yet officially recognized as a medical condition.

Symptoms of Highlander syndrome

Highlander syndrome is mainly characterized by growth retardation, which leaves the person with the appearance of a child when they are over 20 years old, for example.

In addition to developmental delay, people with this syndrome do not have hair; they may suffer from hair loss, the skin is smooth even though it may present wrinkles, and in the case of men, there is no deepening of the voice, so that his tone is usually that of an infant.

These changes are expected at puberty. However, people with Highlander syndrome do not usually enter it.


Possible causes

The actual cause of Highlander syndrome is unknown, but it is believed to be due to a genetic mutation.

One of the theories that justify this syndrome is the alteration in telomeres, which are structures present in chromosomes related to aging.

Telomeres are responsible for controlling the cell division process, preventing uncontrolled division from occurring, which, for example, is what happens in cancer.

A piece of the telomere is lost with each cell division, leading to progressive aging, which is considered normal. However, what seems to happen in Highlander syndrome is the overactivation of an enzyme called telomerase, which is responsible for reconstituting the part of the telomere that has been lost, thus slowing aging.

There are still few reported cases of Highlander syndrome, so what leads to it and how it can be treated is not yet known.

On the other hand, among the recommendations that doctors make if the presence of this syndrome is suspected is that in addition to consulting a geneticist so that a molecular diagnosis of the disease can be made, it seems necessary to consult an endocrinologist to check the production of hormones, which is probably altered so that that hormone replacement therapy can be started on time.

Known Cases

It is known that there is an interest in learning the “cure” for aging or advancing age, but current science is far from this path.

However, Richard Walker, an American researcher, seems to know the secret to slowing the senescence or aging of the body. This scientist carries out a study in which he explains that the key lies in a strange disease, which does not have a real name, which is why he calls it “The x syndrome.”

He identified four infants who contained this symptom, characterized by what appears to be a state of continuous infancy and a drastic step in human development.

The most famous and well-known story is that of the young Gabby Williams, who was part of his study at age 10 when she weighed only 5 kilos and looked like a baby, she is currently 13, and her physical condition has not changed.

There is also the case of the Australian Nicky Freeman, who today is 44 years old, but by his appearance and the size of his bones, he seems to be a child of 10; his growth has been reported to occur once every four years.

Another trendy case is Hyomyung Shin, a 29-year-old boy with this strange condition whose appearance and voice are that of a 10-year-old boy; his height is 163 cm.

He appeared in a documentary on South Korean television recounting the difficulties he has when trying to lead the life of a man in the body of a child, explaining to the reporter, for example, that he often needs to show his identity card to verify that he was born on 1 May 1989, mainly to get into the bars and places he likes to hang out.

Few can be found about Highlander syndrome, as there are very few such cases recorded globally. Still, it was thanks to this term that Hyomyung Shin quickly became a national celebrity in his country.

On the other hand, there is an ABC documentary about a similar condition, since the term “Highlander Syndrome” is not a globally recognized term, which explains in detail Walker’s research with people who present these features mentioned.


As it is considered a sporadic syndrome, with few reported cases, there is a lot of variability between them since there are many doubts about its origin, which favors it. At the same time, there is still no specific treatment that can stop it so that these people can live a lifestyle more consistent and optimal for their age.

However, there is hope since studies are currently being carried out on the reported cases.