The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the helix||90%|
|Abnormality of the nipple||90%|
|Abnormality of the palate||90%|
|Abnormality of the pulmonary artery||90%|
|Abnormality of the pulmonary valve||90%|
|Aplasia/Hypoplasia of the abdominal wall musculature||90%|
|Low-set, posteriorly rotated ears||90%|
|Neurological speech impairment||90%|
|Thick lower lip vermilion||90%|
|Thickened nuchal skin fold||90%|
|Abnormality of coagulation||50%|
|Abnormality of the spleen||50%|
|Abnormality of thrombocytes||50%|
|Delayed skeletal maturation||50%|
|Feeding difficulties in infancy||50%|
|Low posterior hairline||50%|
|Abnormal hair quantity||7.5%|
|Clinodactyly of the 5th finger||7.5%|
|Sensorineural hearing impairment||7.5%|
|Atria septal defect||-|
|Autosomal dominant inheritance||-|
|Coarctation of aorta||-|
|Failure to thrive in infancy||-|
|Patent ductus arteriosus||-|
|Pectus excavatum of inferior sternum||-|
|Postnatal growth retardation||-|
|Radial deviation of finger||-|
|Reduced factor XII activity||-|
|Reduced factor XIII activity||-|
|Superior pectus carinatum||-|
|Ventricular septal defect||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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The following diseases are related to Noonan syndrome. If you have a question about any of these diseases, you can contact GARD.
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My partner has a daughter from a previous relationship with typical features of Noonan syndrome . She was tested and was found to be a carrier of a mutation on the PTPN11 gene. My partner has also been tested and he has the same PTPN11 gene mutation. My partner is absolutely normal and he has no obvious features of any genetic abnormalities or disorders. He is of normal intelligence, graduated from the University and works as an engineer. I am now pregnant. What is the risk my current pregnancy will have Noonan syndrome and show symptoms of Noonan syndrome? See answer
My daughter has Noonan syndrome. She will be 15. I understand that the onset of puberty can be delayed in kids with NS, as it was with my daughter. She didn't enter puberty until she was into her 13th year. However, as she is approaching 15 she still has not begun her menstrual cycle. Is this normal or cause for concern? See answer
I have Noonan syndrome. I would like to know who discovered this condition and in what year. See answer
Where can I find information about life expectancy for Noonan Syndrome? See answer
My granddaughter was diagnosed from a genetic blood test with Noonan syndrome, and has a mutation in the SOS1 gene. She is only 3 months old and has already had 3 operations due to stridor. She also has a heart murmur and pulmonary stenosis. She is not eating and has had to have a feeding tube. My daughter and son-in-law need help in knowing what is best to do for her. See answer
Has there been any genetic link found between Noonan syndrome and cherubism? I have both, and no family history of either condition. My front teeth feel like they are being compressed and it is very painful, but nothing I read about cherubism mentions pain; is there information anywhere about this? Are there any good resources, or is there any research, that you could direct me to for more information? See answer
Are males with Noonan syndrome able to father children? What is the risk to offspring of affected individuals? See answer