healthHealth and Medicine

This Little Girl Is Rocking Albert Einstein Hair Thanks To A Super Rare Genetic Condition


Uncombable hair syndrome expert Regina Betz concedes Einstein himself may have had the rare condition, yet without a DNA sample, we will never know. Wikimedia Commons.

Taylor, an adorable 18-month-old toddler from the Chicago suburbs, will probably never experience what its like to have the sleek, shiny hair that modern beauty standards idealize, but that’s OK, because she is truly one in a million. Scratch that – more like one in 76 million.  

As first reported by Buzzfeed News, Taylor McGowan is one of the very small handful of people diagnosed with uncombable hair syndrome (UHS), an incredibly rare inherited condition that is caused by mutations in one or more of three genes that are involved in hair shaft formation.


Also known as ‘spun glass hair syndrome’, ‘pili trianguli et canaliculi,’ or ‘cheveux incoiffables’, UHS has been officially recognized as a hair disorder since in 1973, yet the distinctive outward phenotype was not linked to an underlying genotype until 2016. That year, a study led by researchers from the University of Bonn, Germany, established that the unusually fine, frizzy, and wiry hair texture arises from homozygous function-altering variations of the PADI3, TGM3, or TCHH sequences; meaning it is a recessive condition that only presents when individuals receive mutant gene copies from both parent.

The group’s data came from whole-genome sequencing of 11 people with UHS. To date, there have been 101 (including Taylor) reported cases.

Most individuals with diagnosed UHS, including Taylor, carry variations in PADI3, which encodes an enzyme called peptidylarginine deiminase type III. This catalytic protein, expressed in the hair follicle, modifies the electrical charge on hair structural proteins so that they can be knitted together into the shaft. When the enzyme isn’t working properly, the shafts take on a wrinkled, triangular shape that prevents them from lying flat on top of one another. UHS hair is often silvery, blonde, or strawberry in color and may also grow at a slower-than-normal rate.

UHS hair texture often becomes more manageable as the individual ages, but even in those cases, it remains delicate and at least somewhat unruly for life.


In Taylor’s case, her parents first noticed the flyaway hair when she was around four to six months old, but assumed it was merely wacky baby hair that would soon fall out and be replaced with more conventional-looking tresses. That never happened.

A family friend stumbled upon information about UHS and sent it to the McGowans. Though they were skeptical that their daughter could have such a rare condition, they eventually contacted the lead researcher of the UHS study, and arguably the world expert on the condition, Regina Betz.

Betz and her colleagues, who speculate that there are probably thousands of undocumented UHS cases worldwide, were able to confirm Taylor’s diagnosis after analyzing blood samples shipped to the lab.

Images from the study led by Regina Betz. A through E: Images of affected individuals. F and G demonstrate one child's improved hair texture over time. J shows an adult with UHS. K and L are micrographs of affected hair, whereas M is normal hair. Basmanav et al./American Journal of Human Genetics, 2016.

Now well aware that their child may struggle with looking different as she grows older, the McGowans are hoping to focus on the positive.


"Her hair looks amazing, like she’s a mini Albert Einstein," Taylor's mother, Cara McGowan, told BuzzFeed. "It stands completely on end."

"Our message that we would like to spread is one of accepting diversity, loving oneself, and recognizing bullying and what it looks like and making it stop," she said. "Being different is OK, being different is acceptable, and it should be celebrated."

[H/T: Buzzfeed News]


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