Doctors spot mysterious new condition in newborns that causes conjoined toes and ‘rocker bottom feet’

Doctors have described a constellation of birth defects, including joined toes and bowed feet, as consequences of expectant mothers using fentanyl during pregnancy.

The Delaware-based pediatricians identified 10 babies with the defects in their state, as well as in California, Boston and Rhode Island, believed to be suffering from fetal fentanyl syndrome.

Their report is the first to reveal a link between the deadly street drug fentanyl currently sweeping the country and these birth defects, possibly due to the fact that patients often withhold their drug use histories.

Researchers in Delaware were the first to discover a link between these birth defects and maternal fentanyl use. It is possible that children born with these abnormalities have been misdiagnosed as having a genetic condition with some of the same symptoms called Smith Lemli Opitz syndrome.

In addition to causing joined fingers in bowed “rocker bottom” feet — named for the way bowed feet resemble the legs of a rocking chair — fetal fentanyl syndrome can lead to a cleft palate, an unusually small head, and neurological and behavioral problems that lead to persist into adolescence. .

Fentanyl has impacted millions of lives, and pregnant women are no exception. Deaths from the drug, which is 50 times more potent than heroin, more than tripled between 2016 and 2021, from 5.7 per 100,000 people in 2016 to 21.6 in 2021.

Further evidence is needed to prove beyond a reasonable doubt that fentanyl is the cause of these birth defects, which is not yet an established scientific fact. The National Institutes of Health, for example, said just two years ago that 'based on the studies reviewed, fentanyl exposure is not expected to increase the risk of birth defects above the background risk.'

But researchers at Nemours Children's Hospital in Delaware, who authored the latest study, believed their “striking” discovery of a common thread between all ten babies was compelling.

They said: 'No common genetic or genomic abnormality was identified, but prenatal exposure to fentanyl was distributed among the pregnancies.

'Although the effect of fentanyl on cholesterol metabolism has not been directly tested, based on indirect evidence it is biologically plausible that it affects cholesterol metabolism in the developing fetus.'

They stated that when a mother uses fentanyl during pregnancy, the drug disrupts the processes by which the body produces, uses and eliminates cholesterol, a fat molecule essential for building membranes around cells and producing hormones and vitamin D.

The study is the first to link these birth defects to fentanyl specifically, although it is inconclusive. Authors said more research is needed

When cholesterol cannot be properly processed by the body, it can lead to damage to brain cells and tissues, as well as liver damage, growth problems, poor heart health, behavioral problems and metabolic disorders such as obesity and diabetes.

Cholesterol metabolism begins with the ingestion of cholesterol through food or via synthesis in the liver. It is packed in lipoproteins, or particles made of proteins and fat, that are transported through the blood.

There are two types of cholesterol: “good” HDL, which removes excess cholesterol from the blood and returns it to the liver for elimination, and “bad” LDL, which transports cholesterol from the liver to the cells.

When these types of cholesterol are out of balance, a person may experience hardening of the arteries, which increases the risk of heart disease.

The possible link first came to the attention of report co-author and geneticist Erin Wadman in August 2022, when she treated a baby with a similar appearance, including a smaller-than-average head and an underdeveloped jaw, to a series of previous patients, including a cleft palate. palate and unusually small bodies and heads.

The babies also often had upturned noses, drooping eyelids, undersized mandibles and webbed toes. They may also have difficulty eating and their thumbs may be deformed. Genetic testing ruled out a syndrome also called Smith-Lemli-Opitz syndrome.

Dr. Wadman told it NBC News: 'I was sitting there at the appointment and I thought this face looks so familiar to me. This story sounds so familiar. And I was just thinking about how this patient reminded me so much of a patient I had seen earlier this year, and of other patients I had seen.

“Then we thought we might have stumbled onto something really big here.”

The mothers' use of fentanyl was documented, but doctors did not know when or for how long during their pregnancies they used the drug, meaning further research into the condition and its causes was needed.

Fentanyl has become a public scourge in the latest stages of the opioid epidemic, killing the equivalent of one American every eight minutes.

In addition to the fact that opioid use during pregnancy can cause a baby to be born with neonatal abstinence syndrome, opioid use during pregnancy can cause small size at birth, a smaller head, and sudden infant death.

A series of past medical studies have shown that neonatal abstinence syndrome is associated with a higher risk of death at a young age. A 2017 Seattle researcher found that babies with a history of neonatal abstinence syndrome have a 3.4 times higher mortality risk compared to infants not exposed to opioids in utero.

Another 2021 study by scientists at Dartmouth College found that in their study population 25 percent of deaths among infants exposed to opioids resulted in sudden unexplained infant deaths, which is consistent with findings from several other studies indicating that infants exposed to drugs in utero experience relatively higher rates of sudden unexplained infant deaths.

Researchers behind the latest study linking fentanyl to birth defects could not conclusively determine that fentanyl was the cause, recognizing that there may be other causes.

Fentanyl is often used as a cutting agent in medications to enhance the high and extend the supply. Fentanyl on the street also consistently shows evidence of being contaminated with other highly potent compounds, such as nitasenes.

Researchers said: 'It is not possible to rule out that a contaminant in the fentanyl, and not the fentanyl itself, is causal for the phenotype. Nevertheless, this clinical report is crucial to identify this new condition and pave the way for future research.”

The research was published in the journal Genetics in Medicine Open.