Medical Mystery: Ectrodactyly

Doctors are helping people with a congenital condition lead more normal lives.

ByABC News

Jan. 29, 2007 — -- The rare congenital deformity ectrodactyly used to go by the simpler, more descriptive name of lobster claw syndrome.

Typically, a person with ectrodactyly has a cleft where the middle finger or toe should be, a condition that gives the hand or foot the appearance of a lobster's claw, but ectrodactyly patients can have any number of unusual arrangements of the digits.

Bree Walker has ectrodactyly. As an actress, she has appeared on the edgy sitcom "Nip/Tuck," where her character is asked if she had children, and if they inherited the condition.

"Tossed the coin and it came up tails both times," Walker's character replied. "They both have it. Ultimately, I decided they had every right to be here and to be different."

That's a case of art imitating life, since Bree herself has had two children. Both times that she became pregnant, she knew that there was a 50-50 chance that she would hand down the deformity to her children.

In 1991, Walker was a popular television anchor in Los Angeles. She and her then-husband, sportscaster Jim Lampley, decided to pursue a pregnancy despite knowing that the deformity could be passed along.

Already, her first child from a previous marriage inherited ectrodactyly, so she scrutinized her decision to try to have a second child.

The new baby, Aaron Lampley, was born with ectrodactyly on both feet and hands, just like his sister and mother.

"The controversy around Aaron's birth was the darkest moment of my life," Walker said.

Decades ago, a person diagnosed with ectrodactyly might join a circus sideshow, where the dramatic deformity would play to human fear and fascination with those considered freaks in society.

Members of the same family would work together -- like Grady Stiles Sr. and Grady Stiles Jr., known in the circus world as the Lobster Boys.

Dr. Joseph Upton, a hand and plastic surgeon in the Boston area, however, has helped patients with the deformity lead more normal lives, and in some cases, beat the deformity's crippling effects.

Sisters Samantha and Stephanie Wojciechowicz both suffer from ectrodactyly, a condition they inherited from their mother.

When the girls were 2 years old -- each with just a single finger on each hand -- they visited Upton for the first time. The doctor would change their lives.

"To a microsurgeon, toes are spare parts available for transfer," Upton said.

Using a microscope, Upton used the children's tiny toes to make tiny thumbs.

"We took this toe and moved it on this hand, hooked up all the tendons, nerves, arteries, bones," Upton said, describing the procedure. "It certainly is not a normal thumb, but it has good sensation, it has some movement."

At home after the procedure, the toddlers first learned how to use the new thumbs to grip basic items and ultimately write and draw.

Now, at 14 years old, Stephanie just received an "excellent" grade in her penmanship class.

"Just the difference before and after the operation was just so gratifying," Upton said. "I mean, that's worth the price of admission."

Samantha, now 12, is interested in art and loves to draw -- though her hand does get sore after using it for too long. Both girls participate on the school's soccer team, despite missing toes on their feet.

"We're normal people," Stephanie said. "We're not different."

Walker made no apology when her second child -- like her first -- was born with ectrodactyly. Her daughter, Andrea, now attends the University of Southern California, and Aaron is still in high school.

While both acknowledge the challenges associated with their shared deformity, they are also thankful for their parents' attitude.

"They didn't make having a disability the most significant thing in our lives," Andrea said. "Instead, they made having awareness, a compassion, empathy for everyone, you know, the most important value, I think, that we were raised with."

And it turns out they may have some noteworthy company.

One Leonardo da Vinci researcher, Ben Sweeney, now claims that the famous artist may have had syndactyly, or webbed fingers.

Sweeney said that the artist's own hand was used as the model for the hand on the Christ figure in da Vinci's "The Last Supper."

After viewing Sweeney's findings, Upton, the ectrodactyly specialist, agreed that da Vinci's left hand -- the hand primarily responsible for his famous artworks -- was abnormal.

In da Vinci's day, the deformity was either hidden or highlighted in a circus sideshow. Today the genetic accident is gaining acceptance, and for some, is benefiting from modern medicine.

And Walker, whose decision to go ahead with her pregnancy came under fire, has no regrets about the decision she made.

"When I look at the contributions that these kids are going to make, the contributions they've already made, I just know that they're here for very good reason," she said, "and they were the best things I've ever done."