Noonan Syndrome enparents syndrome is a condition that some babies are born with. It causes changes in the face and chest, and usually includes heart problems.noonan, nunan, noonan syndrome, Lymphatic Malformations, lymphangiomas, lymph, lymphatic, mass in the head or neck, lymphatic vessels, cystic hygroma, lymphatic vacular malformations, Low-set ears, Backward-rotated ears, Deeply grooved philtrum, undersized lower jaw, LEOPARD syndrome, Hypertelorism, Cardiofaciocutaneous syndrome, Short stature, growth hormone, autosomal dominant, Lordosis, Pulmonary valvular stenosis, typical face dysmorphology, congenital heart defects, cryptorchidism, delayed puberty, Neuroblastoma, multiple lentigines, ECG abnormalities, Ocular hypertelorism, hearing loss, gene mutation, bleeding disorders, syndrome, syndromes, RASopathies, cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, familial Turner syndrome, female pseudo-Turner syndrome, male Turner syndrome, Noonans, Noonan's, Ullrich-Noonan syndrome, Noonan-Ehmke syndrome, NS, Ullrich10/03/201803/15/201909/02/2019Karen W. Gripp, MD10/01/20185e0e06a5-ddd6-4a24-8218-a6a31a55caff<h3>What Is Noonan Syndrome?</h3> <p>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 (<a href="">leukemia</a>).</p> <p>Noonan syndrome is a pretty common condition, affecting 1 in 1,000–2,500 babies.</p> <h3>What Are the Signs &amp; Symptoms of Noonan Syndrome?</h3> <p>Most children with Noonan syndrome have differences in the shape of their face and head. These are noticeable at birth and include:</p> <ul> <li>wide-set pale blue or blue-green eyes</li> <li>thick, low-set ears</li> <li>a thickened philtrum (the pair of ridges between the nose and the mouth)&nbsp;</li> <li>small lower jaw</li> <li>loose skin on the neck</li> <li>nipples that are far apart</li> <li>boys: testes in the belly, not in the scrotum (<a href="">undescended testicles</a>)</li> </ul> <p>They may also have:</p> <ul> <li><a class="kh_anchor">heart problems</a> including: <ul> <li>pulmonic valve stenosis: when the pulmonary valve is too small, narrow, or stiff. (This valve is between the right ventricle and the&nbsp;<a class="kh_anchor">pulmonary artery</a>.)&nbsp;</li> <li>heart rhythm problems: when an <a href="">ECG</a> (heart rhythm tracing) shows that the heart is not beating regularly</li> </ul> </li> <li>swollen hands and feet</li> <li>a sunken breastbone (<a href="">pectus excavatum</a>) or bulging breastbone (<a href="">pectus carinatum</a>)</li> <li>trouble feeding</li> <li>slow weight gain</li> </ul> <p>Other differences as the child grows might include:</p> <ul> <li>starting to smile, walk, talk, and other things later than most children</li> <li>vision and <a href="">hearing</a> problems</li> <li>learning and language problems</li> <li>slow growth</li> <li>short height</li> <li>easy bruising and bleeding a lot (from <a href="">periods</a>, nosebleeds, cuts, etc.)&nbsp;</li> <li>crooked teeth</li> <li>side-to-side curve in the backbone (<a href="">scoliosis</a>)</li> <li>late <a href="">puberty</a>&nbsp;</li> </ul> <p>The symptoms of Noonan syndrome can be mild to severe. Two children with Noonan syndrome may have completely different symptoms and skills.</p> <h3>What Causes Noonan Syndrome?</h3> <p>A <a href="">gene</a> mutation (change) causes Noonan syndrome. Many different gene mutations can cause it.</p> <h3>Who Gets Noonan Syndrome?</h3> <p>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.</p> <h3>How Is Noonan Syndrome Diagnosed?</h3> <p>Doctors usually notice the features of Noonan syndrome at birth or soon afterward and suspect the diagnosis. The doctor will:</p> <ul> <li>ask about the family history of genetic conditions</li> <li>do an exam</li> <li>consider other genetic disorders with similar symptoms</li> </ul> <p>Based on the results of these steps, the doctor will decide if a child may have Noonan syndrome.</p> <p>A <strong>geneticist</strong> (a doctor who specializes in genetic disorders) will order a <a href="">genetic test</a> 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.</p> <p>The doctors may also order these imaging tests:</p> <ul> <li><a href="">magnetic resonance imaging (MRI)</a></li> <li>computed tomography (CT) scan</li> <li>ultrasound</li> <li><a href="">echocardiogram</a> (an ultrasound of the heart)</li> </ul> <h3>How Is Noonan Syndrome Treated?</h3> <p>There's no cure for Noonan syndrome, but medical care can help with almost every symptom.</p> <p>For example:</p> <ul class="kh_longline_list"> <li>Medicines and surgery can help heart problems.&nbsp;</li> <li>Medicines or <a class="kh_anchor">blood transfusions</a>&nbsp;can treat bleeding.</li> <li>Growth hormone can help speed up slow growth.</li> <li>Surgery can correct undescended testicles.</li> <li>Education programs can help a child who has trouble learning.</li> <li>Many children will have trouble with speech and language. Working with a <a href="">speech therapist</a> before problems start can make these problems milder.</li> </ul> <p>A team of doctors, nurses, therapists, and social workers provide care for a child with Noonan syndrome.</p> <p>Meeting with a <a href="">genetic counselor</a> can help families:</p> <ul> <li>learn what to expect</li> <li>understand their chances of having another child with Noonan syndrome</li> </ul> <h3>What Problems Can Happen?</h3> <p>As they grow into adulthood, most children with Noonan syndrome have:</p> <ul> <li>a final adult height near the lower end of the average range</li> <li>heart problems that may get worse, so they need to see a heart specialist regularly</li> <li>a slightly higher risk of getting leukemia</li> <li>a life expectancy that usually depends on how well their heart is working</li> </ul> <h3>Looking Ahead</h3> <p>A child with Noonan syndrome who does not have serious heart problems usually:</p> <ul> <li>does very well with support</li> <li>reaches <a href="">puberty</a> and the teenage growth spurt later than most peers</li> </ul> <p>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&nbsp;<a href="">The Noonan Syndrome Foundation</a>.</p>Síndrome de NoonanEl síndrome de Noonan es una afección con la que nacen algunos bebés. Causa cambios en la cara y el pecho, incluyendo habitualmente problemas en el corazón.
All About GeneticsRead the basics about genetics, including how certain illnesses, or increased risks for certain illnesses, pass from generation to generation.
Atrial Septal Defect (ASD)Atrial septal defect (ASD) — also known as a "hole in the heart" — is a type of congenital heart defect. Most ASDs are diagnosed and treated successfully.
CardiomyopathyCardiomyopathy is when the heart muscle becomes weak and enlarged, which makes it difficult to pump blood through the body. There’s usually no cure for the condition in children, but it can be treated.
Chest Wall Disorder: Pectus CarinatumPectus carinatum, sometimes called pigeon chest, is a deformity of the chest wall in which the chest juts out.
Chest Wall Disorder: Pectus ExcavatumPectus excavatum is a deformity of the chest wall that causes several ribs and the breastbone to grow abnormally, giving the chest a "caved-in" appearance.
Genetic TestingAdvances in genetic testing help doctors diagnose and treat certain illnesses. The type of test done depends on which condition a doctor checks for.
LeukemiaLeukemia refers to cancers of the white blood cells. With the proper treatment, the outlook for kids with leukemia is quite good.
Lymphatic MalformationsA lymphatic malformation is a clump of lymph vessels that form a growing spongy cluster. They're unusual growths, but are not cancerous.
Neurocutaneous SyndromesNeurocutaneous syndromes are genetic disorders that lead to tumor growth in various parts of the body. Learn how to maximize the quality of life for children with these diseases.
Neurofibromatosis Type 1Neurofibromatosis type 1 (NF1) is a genetic condition that causes benign tumors in and under the skin, often with bone, hormone, and other problems. Learn more about how it's diagnosed and treated.
ScoliosisScoliosis makes a person’s spine curve from side to side. Large curves can cause health problems like pain or breathing trouble. Health care providers treat scoliosis with back braces or surgery when needed.
Turner SyndromeGirls with Turner syndrome, a genetic condition, usually are shorter than average and infertile due to early loss of ovarian function. Early diagnosis and treatments can help most of them.
Undescended TesticlesShortly before birth, a boy's testicles usually descend into the scrotum. When a testicle doesn't make the move, this is called cryptorchidism, or undescended testicles.
Ventricular Septal Defect (VSD)Ventricular septal defect (VSD) — also known as a "hole in the heart" — is a congenital heart defect. Most VSDs are diagnosed and treated successfully.
kh:age-allAgesOrAgeAgnostickh:clinicalDesignation-cardiologykh:clinicalDesignation-geneticskh:clinicalDesignation-hematologykh:clinicalDesignation-oncologykh:genre-articlekh:primaryClinicalDesignation-geneticsHeart & Blood Vessels, Chromosomal & Metabolic Conditions