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Costello syndrome

Costello syndrome is a genetic disorder that affects many parts of the body. This condition is characterized by delayed development and mental retardation, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Heart abnormalities are common, including a very fast heartbeat (tachycardia), structural heart defects, and overgrowth of the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be large at birth, but have difficulty feeding and grow more slowly than other children. Later in life, people with this condition have relatively short stature and many lack growth hormone. more...

C syndrome
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Cor pulmonale
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Coronary heart disease
Cortical dysplasia
Corticobasal degeneration
Costello syndrome
Craniodiaphyseal dysplasia
Craniofacial dysostosis
CREST syndrome
Creutzfeldt-Jakob disease
Cri du chat
Cri du chat
Crohn's disease
Crouzon syndrome
Crow-Fukase syndrome
Cushing's syndrome
Cutaneous larva migrans
Cutis verticis gyrata
Cyclic neutropenia
Cyclic vomiting syndrome
Cystic fibrosis
Dilated cardiomyopathy
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy

Beginning in early childhood, people with Costello syndrome have an increased risk of developing certain cancerous and noncancerous tumors. Small growths called papillomas are the most common noncancerous tumors seen with this condition. They usually develop around the nose and mouth or near the anus. The most frequent cancerous tumor associated with Costello syndrome is a soft tissue tumor called a rhabdomyosarcoma. Other cancers also have been reported in children and adolescents with this disorder, including a tumor that arises in developing nerve cells (neuroblastoma) and a form of bladder cancer (transitional cell carcinoma).


Mutations in the HRAS gene cause Costello syndrome. The HRAS gene provides instructions for making a protein that helps control cell growth and division. Mutations that cause Costello syndrome lead to the production of an HRAS protein that is permanently active. Instead of triggering cell growth in response to particular signals from outside the cell, the overactive protein directs cells to grow and divide constantly. This unchecked cell division can cause cancerous and noncancerous tumors to develop. It remains unclear how mutations in the HRAS gene cause the other features of Costello syndrome, but many of the signs and symptoms probably result from cell overgrowth and abnormal cell division.

This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases have resulted from new mutations in the gene, and occur in people with no history of the disorder in their family. This condition is rare; 150 to 200 cases have been reported worldwide.


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PSP: A Real-Life Pause Button
From, 3/22/05 by Robert MacMillan

Byline: Robert MacMillan

First there was P2P. Now there's PSP . Either way, it's PCP.

How else to explain the midnight opening of electronics stores across the nation so that jonesing hordes of gamers could score Sony Corp. 's latest attempt to accelerate the American empire's decline and fall?

My mistake. They don't care if America stands or falls. Standing is better, thanks, because capitalism requires fresh, warm, humans who can spend $250 on the new PlayStation Portable handheld game system -- or at least speak their native tongue well enough to persuade parents to fork over the cash. Then they can play games and watch movies while idling in human screensaver mode until Sony's next revolutionary product release.

The Chicago Tribune wrote about a 16-year-old from Oak Park, Ill., who is handing over his hard-earned cash to Sony for the privilege of acting as the company's local pitchman: " Eric Santiago isn't happy to part with $250, but getting his hands on a PSP is worth it. 'I'm gonna have it on me 24/7.'"

More from the Trib: "Santiago is one of more than 80 gamers who have paid a $50 deposit at Game Stop , a Humboldt Park store that's been accepting PSP pre-orders for six months. 'I'm on the go a lot, and I can't take a PlayStation 2 everywhere,' said Santiago, who spends about three hours a day playing video games. ... Santiago passed on Nintendo 's DS hand-held game player when it was released last fall in favor of waiting for the PSP. 'The DS has beautiful graphics,' he said. 'But the games don't back it up. PSP is coming out with great titles. It's going to be way better.'"

See? The kid's on the go a lot. Sony has what it takes to appeal to the harried junior executive.

The PSP also caters to hardcore losers of the adult variety, as the San Jose Mercury News reported. " Richard Roth had his moment in the spotlight in the wee hours of Wednesday night. At midnight, he raised his arms in a victory sign as he became the first game fanatic to purchase Sony's PlayStation Portable. Jack Tretton , executive vice president of sales at Sony's U.S. games division, handed Roth the PSP at the checkout counter. Tretton said, 'One down' as Roth handed over more than $300 in cash."

Roth told the Merc and other press hounds that he had waited 42 hours so he could be the first in line to buy the PSP at the PlayStation store at Sony's Metreon mall in San Francisco. "I've had 20 minutes of sleep in the last day, but the experience was good. I knew when I first heard about this, I had to have it," he said. Why? The sharp, high-resolution screen, the MP3 music player, the 3-D games and the movies.

On West 33rd and Broadway, there was a similar scene as people lined up in the rain and sleet, the New York Daily News reported : " Luis Price , 25, a computer technician from Brighton Beach, Brooklyn, was first on the block-long line outside the store because he got there at 4:30p.m. -- without an umbrella. 'I'm soaking wet, but it's worth it,' he gushed. It's everything in one. I can't believe I got it."

Our paper also devoted a fair amount of ink to the PSP: " Chris Gillis 's plan goes something like this: Be up at 7 a.m., throw on jeans and a T-shirt, make the five-minute drive to Target . Then wait in line. Target, at Westfield Shoppingtown in Wheaton, opens at 8. He must get the PSP. He will get the PSP."

You must forgive my tendency to take a skeptical view of product launches like this and the media frenzies they inspire (never mind that what I'm writing just feeds the hype). Despite the youthful visage you see on this column, I'm actually 83 years old. Events like the unleashing of the PSP make me want to say curmudgeonly things like, "Hey America! Don't you have anything better to do than anaesthetizing yourself with games and movies wherever you go?" Of course, I might have said the same thing at the advent of transistor radios, the Walkman , portable televisions and mobile phones -- and I eventually ended up carrying all those things.

I doubt that I will cotton to the PSP in the same way I did to those devices. Most of those debuted when I was a few years younger and wanted something to keep me from being bored whenever I went outside. I have since discovered that books do the trick, though maybe reactionaries like me considered the printed page a sign of the apocalypse in 15whatever. Yes, it's part of the process of growing up, getting old and learning how to get irritated by children.

America -- and because of an unstoppable cultural export policy that we invented by accident, most of the rest of the world -- loves a good product launch. We're tuned better than Yo Yo Ma 's cello to respond to Sony's public relations engine. And that's OK. People love games. Even I got addicted enough to Quake when it first came out that I used to give myself motion sickness because I wanted a monitor big enough to make the action really real.

But I can't help feeling like we're being played with more skill than Yo Yo's instrument. It takes serious effort to create a situation where thousands of people can spend more money than they might normally afford, then thank the spendee for the opportunity. It happens with clothes and food, but we need those things. Maybe it's because Sony's giving us something painless to do with the time that we might otherwise spend worrying about reality. We already have TV, but it's such a commoditized market. Wrapping up several mind-numbing activities in one package that we can take with us is nearly as ingenious as cigarettes, but with the only possible negative health effect being carpal tunnel syndrome. So fine, bring it on, but I'll sit this game out.

Side note: I confess that one item about PSP tempted me -- the idea of movies anywhere, any time. There are format issues, to be sure, and I bet Sony will long remember its failure to get people to buy MiniDiscs , yet I'm curious to see whether the video feature will really work out. But on a more profound level, I can't imagine watching a cinematographic masterpiece like "2001: A Space Odyssey" or an Indiana Jones extravaganza on a Lilliputian movie screen. Just a thought.

Every Day I Write the Blurb

I led off Monday's column with Elvis Costello 's declaration that the retail music business is ready for the rite of extreme unction. At least EC (or Napoleon Dynamite or the Emotional Toothpaste -- call him what you will) is consistent. When the Los Angeles Times asked him what is his own favorite album, he used the Internet as his out: "It's not just that he doesn't want to impose a selection, he says. It's that he doesn't have to. Costello is embracing the growth of online access to music and of the digital playback devices that allow people to sample music easily. 'I look forward to the time when all my albums can be more readily available in ways that people can make their own selections,' he says."

More from the Times: : "Topics range from the future of the record industry as we know it (it's doomed, he believes) to his current favorite download site (the legal world-music source ( ) to obscure '70s singer-songwriter David Ackles (a personal passion of Costello's for years)." And his current faves from his own collection? "This Year's Model," (punk) "King of America" (jangle-punk) and "Imperial Bedroom" (baroque punk).

I'll bring you more news on Elvis and the Internet, no matter where he goes. Meanwhile, we'd love to have EC himself come aboard but we don't feel like dealing with PR hell. Who will be the resourceful reader with a friend who has a friend who knows Elvis, or at least his chief handler? We want Costello at and we want him now!

Touched by a Democrat: From the Kay Bailey Hutchison Files

In yesterday's column , I brought you a story from the Austin American-Statesman about a video circulating through the ranks of conservative Texans. The video shows Sen. Kay Bailey Hutchison (R-Tex.) engaging in a display of flagrant bipartisan bonhomie with Sen. Hillary Rodham Clinton (D-N.Y.). It is designed to erode support among GOP voters for Hutchison, who reportedly is contemplating a challenge to Republican Gov. Rick Perry 's reelection. Perry spokesman Luis Saenz yesterday denied any involvement from the governor's camp, but confronted with new evidence, changed his tale for today's paper :

"The [senators] appeared back-to-back at a March 3 event at the Sewall-Belmont House and Museum , devoted to women's history, on Capitol Hill in Washington, a museum spokeswoman said. Laura Nisbet said that at the time, two men taping the event identified themselves as working for Perry. ... Saenz, informed of Nisbet's account, said today that the campaign hired the men to tape the event. He said he subsequently shared the tape with key supporters 'who thought it was funny,' and the snippet bouncing around via e-mail germinated without campaign direction. 'It's all over the Internet now like a virus,' Saenz said." Note to Saenz: Just in case you need it, lists plenty of civil servant positions on its job site.

Bored Employees Rediscover Work

Who knew that TiVo was really a plot spawned by managers across the country to bolster productivity rates? USA Today reports that "TV buzz isn't what it used to be. Morning-after gabfests around the water cooler dishing about last night's Lost are dying out -- or at least spreading out -- as more viewers are converted to the DVR age. The DVR, or digital video recorder, is the most popular home electronic device available right now."

The paper explores the popular notion that the recorders are changing the way America watches television, but it's the article's focus on work that sets it apart: "'I don't watch TV in real time anymore,' says Bethe Ferguson , 26, of Cincinnati. ... 'When the ladies in my former office used to talk about Desperate Housewives [on] Monday mornings, I would have to run away just so it wasn't spoiled,' says Ferguson, a magazine editor. 'Then they would slowly transition into business matters, and I would miss it all because I didn't want the plot of a TV show ruined.' She says she 'lost out on key business talks because of it.'"

Wrong-Way Worm

If hackers want to be known as courageous Maccabees fighting against the machine, they need to produce results opposite from the ones they generated for Washington state tax collectors. As the Associated Press reported , "A computer worm that infected the state Revenue Department 's system caused some businesses to be charged twice for their taxes." The worm shut down the network, throwing the billing system out of whack. That, the AP said, caused the system to stop flagging the accounts of businesses that had paid their taxes over the Internet. Note to hackers: The worm is supposed to double our refunds. Next time, try harder. (This is not an inducement to criminal activity -- really.)

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