AT ONLY 36 inches tall, Jenifer Sandoval may look and act like a typical four-year-old toddler - but she is actually 22

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Renee Martinez with her 22-year-old daughter Jenifer Sandoval

Jenifer, who lives in Colorado, USA, suffers from an ultra rare disorder that leaves sufferers locked in permanent infancy.

Known until recently only as ‘Syndrome X’, the families of those affected by this dramatic arrest in development were offered very little relief from doctors, who were stumped by the shocking symptoms.

But now a pioneering scientist has been able to decipher the genetic causes behind the disorder, sharing his findings in a new television show. 

Dr Richard Walker, an ageing specialist from Florida, worked with the University of South California has devoted a large portion of his professional life to working out why Jenifer, along with other patients like Alyssa Gomez and Gabby Williams, still look and behave like tiny babies despite their advancing years. 

When a potential sufferer was identified in three-year-old Layla Sapp, from Oklahoma, Dr Walker was determined to find a genetic link between the four girls.

Felicia and Jesse with their three-year-old daughter Layla who suffers with 'Syndrome X'

Working with the world’s top geneticists in San Francisco, Dr Walker was able to identify one single gene in each of the girls six billion strong genetic code that had mutated. 

Dr Walker said: “I think everybody was surprised by what we found. 

“It was never going to be easy because there are six billion genes in the human body. 

“Finding which one of them is damaged is like looking for a needle in a haystack.” 

Dr Walker first came across the condition in 2006 when he met Gabby Williams. 

Eight years old at the time, Gabby did not speak or walk and had the same level of awareness as a newborn. 

“It was the most baffling condition I had ever seen.” Dr Walker said.

The specialist also met Jenifer Sandoval, who despite being aged 22, looks like a toddler. 

Sufferers of Syndrome X still look and behave like children
Alyssa Gomez is a sufferer of Syndrome X

Jenifer cannot see, walk or talk. She fits neatly into a child’s car seat and is just 36 inches tall, weighing 36 pounds.  

Mum Renee Martinez, who lives in Colorado, said: “It’s like I’ve been a new mom for 22 years. 

“When Jen was about three, her features just stayed the same. It was like looking at a baby. 

“To me, it didn’t seem like she was aging and she definitely wasn’t growing.”

The condition has left Jen brain damaged, with low muscle tone.  She is blind and rarely even opens her eyes. 

Renee added: “She’s got baby fine skin. It’s so soft. Real translucent skin.

“I can see all her little veins.  She has baby fine hair – it’s really thin.” 

Jen needs round the clock supervision as though she were a toddler and although she lost her baby teeth around age 11, no other developmental changes have occurred. 

The incredinly rare disorder leaves Jenifer locked in permanent infancy
Dr Richard Walker, an ageing specialist from Florida has devoted a large portion of his professional life to working out why people such as Alyssa still look and behave like tiny babies despite their advancing years

As Jenifer can’t communicate, she often throws temper tantrums and has bitten through her mother’s skin in a rage.

Renee is concerned that now Jen is too old for a place at a special needs school, she will need to be cared for continually by her family. 

“There are day care centres for adults with special needs where they teach them how to cook and look after themselves,” she said. 

“But obviously, Jen is never going to be able to do that.” 

A routine blood test early in Renee’s pregnancy revealed that Jen was developing atypically.  

“When I was about four or five months pregnant, I had an AFP test done and I knew Jenifer was going to be born with some time of disability,” she said. 

“The doctors actually brought up adoption and abortion and, I mean, it wasn’t even an option. You don’t just throw a child away because she is going to be different.”

Jenifer cannot see, walk or talk and is just 36 inches tall
Renee Martinez with her daughter 22-year-old daughter in the park

As doctors struggled to find an explanation for Jen’s stunted development, Renee reached out to Dr Walker. 

Blood samples from each of the ‘Syndrome X’ children were sent to a high tech laboratory in San Francisco for ‘Whole Genome Sequencing’ - a new technology that can identify damaged genes.

Carried out by the world’s number one geneticist, Dr Radoje Drmanac, the experiment found the connection between the girls that Dr Walker was looking for. 

Dr Drmanac said: “Genomics is an exciting new field of science.  We have technology to find this one mutation in a billion letters.  It’s like looking for a spelling error in a thousand books.” 

The syndrome has now been named Neotinic Complex Syndrome and Dr Walker believes that not only will the discovery help the girls suffering from the syndrome, but also lead to advances in the treatment and understanding of conditions like Alzheimer’s, Parkinsons and Dementia. 

Working with the world’s top geneticists in San Francisco, Dr Walker was able to identify one single gene in each of the girls six billion strong genetic code that had mutated

Richard Walker “This is an advancement in science that is second to none.” 

“The genomics people have found that all these girls have mutations in their DNA. The ‘ageing’ gene has been damaged, it’s been mutated. 

“These mistakes in their DNA affect their ability to synthesise protein and that inability to make proper protein is the cause of their clinical problems.

“You have to wonder if these discoveries might not simply extend life beyond the normal range.  It came as a surprise to all of us.” 

“It is amazing how technology has advanced in the last ten years. Who knows what we will discover next?”

Jenifer's story will be featured in 'Tallest Teens’ at 9 pm ET on TLC (USA only), Monday 18th July.