Breaking News
February 17, 2019 - Sinks by Toilets in ICU Patient Rooms Harbor Harmful Bacteria
February 17, 2019 - Cancer cells’ plasticity makes them harder to stop
February 17, 2019 - Young cannabis users have increased risk of depression and suicidal behavior
February 17, 2019 - Tasmanian Devils Likely to Survive Cancer Scourge
February 17, 2019 - Neoadjuvant PD-1 blockade seems effective in glioblastoma
February 17, 2019 - Personal, social factors play role in enabling sustainable return to work after ill health
February 17, 2019 - Mouse studies show ‘inhibition’ theory of autism wrong
February 17, 2019 - Study shows how neuroactive steroids inhibit activity of pro-inflammatory proteins
February 17, 2019 - Use of liver grafts from older donors decreased despite better outcomes in recipients
February 17, 2019 - MUSC researchers discover new mechanism for a class of anti-cancer drugs
February 17, 2019 - HPV misconceptions are causing women to miss smear tests
February 17, 2019 - Sanofi and Regeneron Offer Praluent (alirocumab) at a New Reduced U.S. List Price
February 17, 2019 - Researchers say auditory testing can identify children for autism screening
February 17, 2019 - New method analyzes how single biological cells react to stressful situations
February 17, 2019 - WVU gynecologic oncologist investigates novel treatment for cervical and vaginal cancers
February 17, 2019 - ADHD diagnoses poorly documented
February 17, 2019 - Majority of gender minority youth do not identify with traditional sexual identity labels
February 17, 2019 - AbbVie, Teneobio enter into strategic transaction to develop potential treatment for multiple myeloma
February 17, 2019 - Lower Birth Weight May Up Risk for Psychiatric Disorders
February 17, 2019 - Scientists identify reversible molecular defect underlying rheumatoid arthritis
February 17, 2019 - Moffitt researchers shed light on how CAR T cells function mechanistically
February 16, 2019 - Female Anatomy May Play Big Role in Sperm’s Success
February 16, 2019 - BMI may mediate inverse link between fiber intake, knee OA
February 16, 2019 - Movement impairments in autism can be reversed through behavioral training
February 16, 2019 - Studies address racial disparities in postpartum period and cardiovascular health
February 16, 2019 - Scientists implicate hidden genes in the severity of autism symptoms
February 16, 2019 - Decreased deep sleep linked to early signs of Alzheimer’s disease
February 16, 2019 - Neuroscientists show how the brain responds to texture
February 16, 2019 - Gilead Announces Topline Data From Phase 3 STELLAR-4 Study of Selonsertib in Compensated Cirrhosis (F4) Due to Nonalcoholic Steatohepatitis (NASH)
February 16, 2019 - What Can I Do About Sweating? (for Teens)
February 16, 2019 - Companies navigate dementia conversations with older workers
February 16, 2019 - Newly developed stem cell technologies show promise for treating PD patients
February 16, 2019 - Collaborative material research could advance self-assembling nanomaterials
February 16, 2019 - Researchers take major step in creating technology that mimics the human brain
February 16, 2019 - Erasing memories associated with cocaine use reduces drug seeking behavior
February 16, 2019 - Artificial intelligence can accurately predict prognosis of ovarian cancer patients
February 16, 2019 - Racial disparities in cancer deaths on the decline for America
February 16, 2019 - FDA authorizes new interoperable insulin pump for children, adults with diabetes
February 16, 2019 - Coexisting Medical Conditions, Smoking Explain PTSD-CVD Link
February 16, 2019 - Skin Cancer Screening: MedlinePlus Lab Test Information
February 16, 2019 - ‘Happiness’ exercises can boost mood in those recovering from substance use disorder
February 16, 2019 - Cell manipulation could soon halt or reverse aging
February 16, 2019 - Pumped Breast Milk Falls Short of Breastfed Version
February 16, 2019 - Men’s porn habits could fuel partners’ eating disorders, study suggests
February 16, 2019 - Rapid progression of age-related diseases may result from formation of vicious cycles
February 16, 2019 - Immune checkpoint molecule protects against future development of cancer
February 16, 2019 - New method produces hydrogels that have properties similar to cells’ environment
February 16, 2019 - $4.1 million funding for heart research on Valentine’s Day
February 16, 2019 - General anesthesia in early infancy unlikely to have lasting effects on developing brains
February 16, 2019 - New breakthroughs for muscular dystrophy research
February 16, 2019 - First Opinion: Embryo editing for higher IQ is a fantasy. Embryo profiling for it is almost here
February 16, 2019 - Vapers develop cancer-related gene deregulation as cigarette smokers
February 16, 2019 - Bringing Antimicrobial Susceptibility Testing (AST) to the Community
February 16, 2019 - Decolonization protocol after hospital discharge can prevent dangerous infections
February 16, 2019 - Children with ASD more likely to face maltreatment, study finds
February 16, 2019 - Study finds genetic vulnerability to use of menthol cigarettes
February 16, 2019 - Promising drug developed to rejuvenate muscle cells
February 16, 2019 - H-RT should be the standard of care for men with low risk prostate cancer, study shows
February 16, 2019 - New technique using patients’ own modified cells could help treat Crohn’s disease
February 16, 2019 - Therapeutic endoscopy has an expanding role in the treatment of IBD
February 16, 2019 - Blood clot discovery could lead to development of better treatments for blood diseases
February 16, 2019 - Intervention can increase exclusive breastfeeding rates
February 16, 2019 - New project explores how gaming technologies can help cancer patients communicate better
February 16, 2019 - Catalyst Biosciences Presents Updated Data from Its Phase 2/3 Trial of Subcutaneous Marzeptacog Alfa (Activated) in Individuals with Hemophilia A or B with Inhibitors at the 12th Annual EAHAD Congress
February 16, 2019 - Rerouting nerves during amputation reduces phantom limb pain before it starts
February 16, 2019 - A Hormone Produced When We Exercise Might Help Fight Alzheimer’s
February 16, 2019 - Millions of British people breathe toxic air travelling to GPs
February 16, 2019 - Conformance of genetic characteristics found to be crucial for longer preservation of kidney graft
February 16, 2019 - Researchers use optogenetic tool to control, visualize receptor signals in neural cells
February 16, 2019 - New reversible antiplatelet therapy could reduce risk of blood clots, prevent cancer metastasis
February 16, 2019 - Testosterone is not the only hormone needed for penis development
February 16, 2019 - FDA Advisory Committee Recommends Approval of Spravato (esketamine) Nasal Spray for Adults with Treatment-Resistant Depression
February 15, 2019 - Heart surgery technology developed at Baptist Health debuts after years of secrecy
February 15, 2019 - Prescription Opioids Double Risk of Triggering Fatal Car Crash
February 15, 2019 - New study helps doctors better understand high blood pressure in pregnant women
February 15, 2019 - Beta wave control in Parkinson’s diseased brain could be a potential therapy
February 15, 2019 - Media representations of love may justify gender-based violence in young people
February 15, 2019 - Yoga May Help With Rheumatoid Arthritis Symptoms, Severity
February 15, 2019 - Obstructive sleep apnea linked to inflammation, organ dysfunction
February 15, 2019 - Master your mind: A challenge from WELL for Life

Noonan Syndrome

image_pdfDownload PDFimage_print

What Is Noonan Syndrome?

Noonan syndrome is a condition that some babies are born with. It causes changes in the face and chest, usually includes heart problems, and slightly raises a child’s risk of blood cancer (leukemia).

Noonan

is a pretty common condition, affecting 1 in 1,000–2,500 babies.

What Are the Signs & Symptoms of Noonan Syndrome?

Most children with Noonan syndrome have differences in the shape of their face and head. These are noticeable at birth and include:

  • wide-set pale blue or blue-green eyes
  • thick, low-set ears
  • a thickened philtrum (the pair of ridges between the nose and the mouth) 
  • small lower jaw
  • loose skin on the neck
  • nipples that are far apart
  • boys: testes in the belly, not in the scrotum (undescended testicles)

They may also have:

  • heart problems including:
    • pulmonic valve stenosis: when the pulmonary valve is too small, narrow, or stiff. (This valve is between the right ventricle and the pulmonary artery.) 
    • heart rhythm problems: when an ECG (heart rhythm tracing) shows that the heart is not beating regularly
  • swollen hands and feet
  • a sunken breastbone (pectus excavatum) or bulging breastbone (pectus carinatum)
  • trouble feeding
  • slow weight gain

Other differences as the child grows might include:

  • starting to smile, walk, talk, and other things later than most children
  • vision and hearing problems
  • learning and language problems
  • slow growth
  • short height
  • easy bruising and bleeding a lot (from periods, nosebleeds, cuts, etc.) 
  • crooked teeth
  • side-to-side curve in the backbone (scoliosis)
  • late puberty 

The symptoms of Noonan syndrome can be mild to severe. Two children with Noonan syndrome may have completely different symptoms and skills.

What Causes Noonan Syndrome?

A gene mutation (change) causes Noonan syndrome. Many different gene mutations can cause it.

Who Gets Noonan Syndrome?

Everyone has two copies of almost every gene. It only takes one changed gene to cause Noonan syndrome. Children of a parent who has Noonan syndrome have a 50% chance of having it too.

How Is Noonan Syndrome Diagnosed?

Doctors usually notice the features of Noonan syndrome at birth or soon afterward and suspect the diagnosis. The doctor will:

  • ask about the family history of genetic conditions
  • do an exam
  • consider other genetic disorders with similar symptoms

Based on the results of these steps, the doctor will decide if a child may have Noonan syndrome.

A geneticist (a doctor who specializes in genetic disorders) will order a genetic test to see which mutation the child has. Knowing which gene changed can help doctors get a better idea about which symptoms will be most challenging for the child.

The doctors may also order these imaging tests:

How Is Noonan Syndrome Treated?

There’s no cure for Noonan syndrome, but medical care can help with almost every symptom.

For example:

  • Medicines and surgery can help heart problems. 
  • Medicines or blood transfusions can treat bleeding.
  • Growth hormone can help speed up slow growth.
  • Surgery can correct undescended testicles.
  • Education programs can help a child who has trouble learning.
  • Many children will have trouble with speech and language. Working with a speech therapist before problems start can make these problems milder.

A team of doctors, nurses, therapists, and social workers provide care for a child with Noonan syndrome.

Meeting with a genetic counselor can help families:

  • learn what to expect
  • understand their chances of having another child with Noonan syndrome

What Problems Can Happen?

As they grow into adulthood, most children with Noonan syndrome have:

  • a final adult height near the lower end of the average range
  • heart problems that may get worse, so they need to see a heart specialist regularly
  • a slightly higher risk of getting leukemia
  • a life expectancy that usually depends on how well their heart is working

Looking Ahead

A child with Noonan syndrome who does not have serious heart problems usually:

  • does very well with support
  • reaches puberty and the teenage growth spurt later than most peers

The medical challenges of Noonan syndrome can be stressful for your child and you. But you’re not alone. The care team will work together to help manage problems, and to support your family. You can also ask about support groups, or visit online sites such as:

Date reviewed: October 2018

Tagged with:

About author

Related Articles