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Noonan syndrome

Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. The principal features include congenital heart malformation, short stature, learning problems, indentation of the chest, impaired blood clotting, and a characteristic configuration of facial features. NS is one of the most common conditions associated with congenital heart anomalies, especially those of the right heart. The syndrome is named after Dr Jacqueline Noonan, a paediatric cardiologist based in Kentucky. more...

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Noonan syndrome
Norrie disease

It is believed that 1 in 1,000 to 1 in 2,500 children worldwide are born with Noonan syndrome. It is one of the most common genetic syndromes associated with congenital heart malformations, similar in frequency to Down syndrome. However, the features can vary greatly in patients with NS, thus diagnosis can often be delayed.


Recurrence in siblings and apparent transmission from parent to child has long suggested a genetic defect with autosomal dominant inheritance and variable expression. A clearly affected person had up to a 50% chance of transmitting it to a child. The fact that affected parents cannot be identified for many children with Noonan syndrome suggests that (1) a parent could carry the gene without being affected, (2) that manifestations were variably expressed and could be so subtle as to go unrecognized, (3) that a high proportion of cases represented new, sporadic mutations, or (4) that Noonan syndrome is heterogeneous, comprised of more than one similar condition of differing cause, some not inherited.

In most of the families with multiple affected members, Noonan syndrome mapped to chromosome 12q24.1. In 2001, it was reported that approximately half of a group of patients with Noonan syndrome carried a mutation of the PTPN11 gene at that location, which encodes protein tyrosine phosphatase SHP-2 (Tartaglia M, et al. Nature Genetics 2001;29:465-468). The protein SHP-2 is a component of several intracellular signal transduction systems involved in embryonic development that modulate cell division,differentiation, and migration, including that mediated by the epidermal growth factor receptor. The latter pathway is important in the formation of the cardiac semilunar valves.

Noonan syndrome has been assigned OMIM number 163950 .

Manifestations by organ system

The most prevalent (common) signs are highlighted in bold with frequency listed in parentheses.

HEART(2/3 of patients have a heart defect)

Pulmonary Valvular Stenosis(50%)
Septal defects: atrial —(10%) or ventricular —(less common)
Heart murmur


Failure to thrive as an infant
Decreased appetite
Faddy eater
Digestive/Intestinal problems
Frequent or forceful vomiting
Swallowing difficulties


Cryptorchidism (undescended testicles)(almost all males)


Posterior cervical Hygroma (webbed neck)
Lymphedema (build-up of body fluid due to poor functioning of the lymphatic system)



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Bounce back: 40 smart solutions for when life smacks you in the head
From Men's Fitness, 4/1/04 by Peggy Noonan

Food poisoning, a sprained ankle, a lost job, a divorce ... even an unexpected stay in the big house--shit happens to us all. When it does, what really counts is how you deal with the minor and the major calamities. Are you going to stand up and face the music, or will you wind up as the punch line in a country music song? There is a solution to every problem, and our experts have recommended smart ways to handle 40 of the most common ones. Follow our advice and you'll come out smelling like roses--not flat on your back smelling salts.

Losing Your Job

Swallow your pride and apply for unemployment benefits as soon as you're eligible (you can even file online, avoiding further embarrassment). But before you walk out of the office, ask your boss to write a letter of reference, no matter how poorly you may have done your job. Strike while he's got some pity for you and you'll get a good note. Do not strike him--it may feel good, but you'll get a bad rap.

Premature Ejaculation Redux

So you tried to think of baseball but ended up swinging for the bleachers before the pitcher even threw the first curve. It's time for spin control. Offer a compliment like, "I'm sorry, that's never happened before. I've just never been with a woman as sexy as you." Rather than dwell on your shortcomings, assert your confidence and keep going by getting your hands and mouth in on the action. If you're worried about the early squirt becoming a habit, use a condom. According to surveys, condom users last an average of three minutes longer than men who go au naturel.

A Hernia

Sorry, fella, you can't "bounce back" from a hernia. You're going to need surgery at some point. In the meantime, avoid lifting and pushing, and quit smoking--coughing can aggravate the situation. Also, don't strain in the reading room. You know what we mean. Next time, lift from the knees and wear a belt.

Death of a Pet

Losing a pet can be as intense as losing a friend. First, admit that something tragic has happened, no matter how lightly others seem to be taking it. Give Fido a proper send-off, then the first day you feel better, go to the pet store and pick out a new buddy.

Bad Breath

Popular mouthwashes just make bad breath worse, says New Jersey-based dentist Ken Fieldston, D.M.D. The mint or flavor they contain doesn't do much to mask the smell--it's like putting perfume on a wet dog--and the alcohol won't kill odor-causing bacteria. What they will do is dry out your mouth, resulting in even worse breath. Instead, rinse with tea, especially after a meal. Both green and black teas contain polyphenols, chemicals that actually prevent bacteria from stinking it up in there.

A Razor Cut

For the small nicks, a splash of cold water goes a long way toward stopping blood flow. It tightens pores, like aftershave, but without the drying or burning effects of alcohol. Don't stick a piece of toilet paper on your face and walk around like a goofball until the cuts scab over. Instead, pick up a box of KutKit styptic swabs. They're like Q-tips, but with a clotting solution.

Getting Caught Cheating

Rumor has it that when Carmen Electra caught Dennis Rodman in bed with another woman, his excuse was: "But honey, I don't even know her." It didn't make much sense, but denial is your first defense. Your secretary told everyone about your encounter? Your secretary is crazy. Someone saw you? Someone's lying. Until she's got evidence, she's got nothing. If that fails, convince her it was the first time. Then buy your way back into her good graces. One word: Bling.

A Minor Burn

Apply a dab of honey--its high sugar content allows it to draw infectious fluid from wounds. Due to its acidic pH, it also prevents bacterial growth, and its ability to keep the area moist and protected promotes fast healing and prevents scarring.

A Cold Sore

Icing at the first tingle is a common home remedy. The temperature drop will lower the area's metabolic rate and thereby hamper the sore's development. If that doesn't work, call in the big guns. Baltimore-based internist Dana S. Simpler, M.D., recommends asking your doctor for Valtrex, a powerful antiviral drug commonly used to treat genital herpes. Just two doses and you'll have it whipped within 24 hours.

Bad Credit

This is tough, but the first step is to start paying bills on time. And with credit cards, pay more than the minimum. Next time, limit plastic use to necessities or emergencies, and pay off balances within three to six months. A few months from now, your credit score should start to improve.

A Zit

One word: concealer. Don't think of it as makeup--it's Hide-a-Zit. Head to the drugstore and look for the kind sold in a tube, like ChapStick. (You don't want to be whipping out a compact, chief.) For proper camouflage, buy a color that's a shade lighter than your natural tone.

Sore Throat

Dissolve a little salt in warm water and gargle. Saline solution helps soothe inflamed tissue, and it clears out any gunk on the surface. The salt will also help to kill bacteria in your throat, speeding your recovery. If a sore throat persists for more than a couple of days, though, see a doctor.


The bounce-back actually begins days before you're sprung. Spend a day reflecting and committing yourself to positive life changes. Once you're out, your first order of business is to remove any offensive ink: That "Crips" tattoo on your face may have caused others to steer clear of you in the yard, but it won't do much on a job interview. A few plastic surgeons, like James Nachbar, M.D. (, will remove your jailhouse branding in exchange for some community service.

Carpal Tunnel Syndrome

If your hands go numb or hurt while you're using the computer, you may have carpal tunnel syndrome. But don't invest big bucks in the latest ergonomic keyboard just yet. A recent study found that C.T.S. is often caused by the way your wrist lies in relation to the mouse, not the keyboard. Kill the mouse and you'll kill the pain. Replace it with a trackball.

Losing a Bet

Go double or nothing. Keep at it, and eventually you'll break even--unless you're at a casino. In that case, enjoy the comps and slink home.

(continued on page 134)


There's no such thing as a bad haircut. Repeat that to yourself. Somewhere that bowl-mullet-afro is in style. Say you meant to do it--perhaps those around you will buy it and deem you hip and cuttingedge. Your overblown confidence will give you some cover. A day or two later, run the clippers over it: A buzz cut is confident, too--and it never goes out of style.


Re-implanting a tooth is simple, but your dentist can't do it if you don't act fast. Pick up the lost chomper by the crown, not the root. Hold it under cold running water for a few seconds. When it's clean, tuck it between your cheek and gum until you can hustle to the dentist.


If she's having it, you've got no choice but to face the music ... and the screaming, and the tantrums. And that's before the bundle of joy even arrives. Be a gentleman and do the right thing. But don't allow yourself to get sucked into a marital commitment if your relationship isn't working.


A bag of frozen veggies makes a great ice pack. Press it against your eye to reduce pain and swelling. If it turns black, that's just tough-guy stuff. Men will respect you, knowing you're the type who mixes it up Women will shower you with sympathy. But if your vision is blurry, doubled, or flecked with floaters, go to the ER. People do lose their vision from blunt trauma, even when there is little or no swelling.


* Forgetting Her Birthday: 1-800-FLOWERS has same day delivery.

* Forgetting Your Anniversary:

* Receiving a Counterfeit Bill: Pass it off to a cabbie

Sad ...

* Losing a Screw for Your Glasses: Jam a toothpick into the hole. Break off to fit. * Ordering the Wrong Wine: Don't worry, you'll never know the difference. * Seeing a Bad Movie: Ask for a refund.


* A Bad Job Interview: Send a note reinforcing the points you meant to make. Request a follow up interview. * A Bad Date: Send a note reinforcing the points you meant to make. Request a follow-up. * A Bounced Check: Call the bank moment you realize it. They may cover it. * Being Submerged in a Car: Break a windows with the seal-belt clip--because of pressure on the outside of the door, you'd never open it otherwise.


* A Splinter: Dab on Elmer's glue. When it dries, peel it off. The splinter will come with it. * A Tick in Your Side: Avoid matches--that's an old wives' tale. Use a tweezer. * An Insult: "Yo momma." Always winner.



You promised to love and honor one another "till death do you part," but now she's gone. To plunge back into the dating pool, you'll need to get the stink of failure off you ASAP. Try Internet dating and blind dates to get back in the swing of things. Just be sure you don't come off needy. Not every date leads to romance, but if a few lead to the dirty hula, remember: A fitter body does tons for confidence ... so hit the gym, soldier.

A Bad Job Review

The boss giving you a bad review? Listen closely. When people are presented with a review, they often want to argue it immediately. Sleep on it. If your manager asks questions, answer them as best as you can, but it's fair for you to say, "I'd really like to think this over more first." The next day, ask for a follow-up meeting. Taking criticism in stride and adopting the boss's suggestions for improvement should win you big points.

Sprained Ankle

The first line of defense is RICE, or Rest, Ice, Compression, and Elevation. Later, when your joints start to feel stiff, apply heat to the sprain to help relieve the soreness. For mild sprains--your ankle hurts or swells up a bit, but you can still walk--you should be able to recover on your own within a week to 10 days. If it still hurts, seek help, says Randall Wroble, M.D., physician for hockey's Columbus Blue Jackets.

Upset Stomach

Looking to calm an upset stomach, stop nausea, or ease motion sickness? Ginger has been used since ancient times to soothe stomachs. You can use fresh ginger, dried ginger root, or ginger tea, tablets, or capsules. The only type that won't work: ginger ale--it's usually artificially flavored.

A Wine Stain

Some jackass doused you with Cabernet, and now it looks like your nipples are lactating blood. No worries. Mix two parts hydrogen peroxide with one part dishwashing liquid and rub the concoction on the stain. When it dries, put your shirt back on. Or take your pants off to match.


* Passing Gas in Public: Let out only half of the offending emission. If someone calls, you on it, insist the sound they heard was just a squeaky floorboard. Then shift your weight and let out the other half, proving your point. * Locking Your Keys in Your Car: Don't use a hanger; you'll break something. Call AAA. * Batteries Dying: Warm them under your arms and squeeze out a few more minutes.

COPYRIGHT 2004 Weider Publications
COPYRIGHT 2004 Gale Group

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