THE CURIOUS CASE OF THE STUBBY THUMB

By: Rosa Lin/Medill News Service

“What happened to your thumb?”

“Did you accidentally smash it in the door?”

A thumb was outstretched in the circle of sixth-graders. It had a most peculiar shape, being relatively thin and normal near the base, and then suddenly capped off with a bulbous, short tip, reminiscent of a slightly flattened pearl onion.

The thumb belonged to 10-year old me. And I was showing it off proudly among my bemused friends.

“See, the other one’s like this too!” I stretched out its equally short and bulbous sister. Everyone gaped, laughed, and held the thumb up for inspection.

“You must’ve bitten your fingernails too often when you were little!”

“Did you jam your thumb playing basketball?”

Why, no, I was born this way. If you’re like me, you probably fielded these questions in your youth and wondered whether anybody else in the world has thumbs like yours.

Wonder no more – these thumbs are known in scientific circles as brachydactyly type D, a type of thumb characterized by a shortened distal phalanx (the bone at the tip of the digit) – and we are about to plumb the history, prevalence, myths and genetic basis behind these thumbs.

Most people have a straight, upright thumb, with a nail bed equal to or longer than the nails on their fingers. Some people have a “hitchhiker’s thumb” where the tip can bend back almost 90 degrees. Finally, a few people – from 0.10 to 3 percent of a population – have a shortened thumb, a feature colloquially known as club thumb, stub thumb, toe thumb, potter’s thumb, hammer thumb and most unappealingly, murderer’s thumb. Fortunately the thumb has been christened neutrally by scientists as brachydactyly type D, so henceforth we shall stick with the designation BDD.

BDD was first characterized by fortune tellers practicing palmistry. According to Angelfire.com’s page on Indian palmistry:

“The Murderer’s Thumb Unveiled – The clubbed thumb was traditionally called the ‘murderer’s thumb’ denoting the powerful temper of those who carried it. This thumb has a short first phalange (section) and is broad. The tip of the thumb is fleshy and the thumbnail is short and broad. According to those who know, people with clubbed thumbs [however] are strong willed and can control their emotions.”

Such a description is rather more palatable than Palmistrylines.com’s take:

“This thumb is in a shape of a club. People possessing this type of thumb are animalistic in nature and thought system. They bear brutality of Elementary type. They can harm or murder out of callousness. They lack premeditation and depth.”

Ouch! This leads the meeker among the BDD carriers to wonder: why such a dark reputation among chirologists? For the record, chirologists are fortunetellers.

“When these [traits] started getting studied in the late 19th century … there was a push to link [physiological] traits with personality traits. There’s no real scientific connection between BDD and any personality trait though,” said Dr. Nathaniel H. Robin, an active clinical genetics practitioner and professor at University of Alabama at Birmingham, who authored a paper on BDD.

BDD is so named because it is one of many traits of brachydactyly, the term given for shortened fingers and toes due to underdeveloped bones in hands and feet. For example, there is brachydactyly type A, where middle phalanges of one, several, or all of the fingers and/or toes are shortened; brachydactyly type B, where distal phalanges and nails of the fingers and/or toes are small or absent; and so forth up to type E. Usually brachydactyly is an isolated trait, meaning that it is not associated with other medical conditions and is generally harmless.

Contrary to what many people with BDD think, BDD “is a fairly common trait,” Robin said. It stays in the population because “it’s a benign variant,” meaning it is neither advantageous nor detrimental to those that express the trait.

According to “Abnormal Skeletal Phenotypes,” published in 2005 by Alessandro Castriota-Scanderbeg and Bruno Dallapiccola, two prominent radiologists, BDD occurs in 0.4 percent of whites and 0.1 percent of blacks in the United States, with a higher incidence in Israel (1.6 percent of Jews, 3 percent of Arabs) and Japan. In three-quarters of cases, BDD occurs bilaterally, which means it appears on both thumbs, while in the rest of the cases it only appears on one thumb, with the other thumb normal.

There is also a skew among genders. The pioneering human geneticist Julia Bell found in a 1951 study that 60 percent of those affected with BDD were female, while 40 percent were male. The geneticist Robert Stecher confirmed the preponderance for females in a 1957 study. The reason for this may be due to incomplete penetrance, a genetic term that means that a trait fails to express itself even though a person carries the necessary genes. In the BDD case, there is evidence to suggest that the trait has complete penetrance in females and incomplete penetrance in males. BDD is also an autosomal dominant gene, which means a person only needs to inherit it from one parent in order to express the trait.

In the past 10 years, scientists have been able to gain more insight into the genetic basis of BDD. In a 2003 study published in The American Journal of Human Genetics, researchers reported that two mutations in the gene HOXD13 may contribute to BDD.

So who has this trait? One of its most famous carriers is Megan Fox, an actress starring in the “Transformers” movies. She carries the trait on only one thumb, signaling incomplete penetrance. Due to her profile as a celebrity, discovery of her BDD thumb was highly publicized. Russian author and Nobel laureate Alexander Solzhenitsyn is also purported to have at least one BDD thumb. Other people with the trait include: Malin Akerman (US actress), Tory Mussett (Australian actress), Ashley Lynn Cafagna (US actress), and Kristen van Der Noot (Germany DJ and model).

The most speculated of BDD carriers, however, is past European royalty. Despite valiant efforts, I did not find which royals exactly are implicated, so we shall briefly suspend any curiosity along those lines. The European royalty had higher than normal incidence of inbreeding due to a desire to keep their bloodlines “pure.” This resulted in any abnormality or mutation, such as hemophilia, reappearing in higher rates in descendents, instead of being flushed out by a set of significantly different genes. BDD is claimed by some to be a marker of descent from European royalty. However, as BDD occurs all around the world and is both the result of inheritance and random mutation, this, if true, would only apply to a small subset of those with BDD.

“I have no idea” if BDD is linked to European royalty, Robin said. “It may be true – I have no idea.”

At least I have an idea whether mine is linked to European royalty – I’m 100 percent East Asian!