A syndrome named Noonan-like/multiple giant cell lesion syndrome used to be considered a separate condition from Noonan syndrome. It is now known that multiple giant cell lesions are one of the possible symptoms that can occur in people with Noonan syndrome.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Aplasia/Hypoplasia of the abdominal wall musculature||
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles[ more ]
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Difficulty articulating speech
Wide rib cage
Increased palatal height[ more ]
Widely spaced eyes[ more ]
Joints move beyond expected range of motion
|Low-set, posteriorly rotated ears||0000368|
Little lower jaw
Small lower jaw[ more ]
Decreased size of midface
Underdevelopment of midface[ more ]
Eyeballs bulging out
Protruding eyes[ more ]
Drooping upper eyelid
|Pulmonary artery stenosis||
Narrowing of lung artery
Decreased body height[ more ]
|Thick lower lip vermilion||
Increased volume of lower lip
Plump lower lip
Prominent lower lip[ more ]
|Thickened nuchal skin fold||
Thickened skin folds of neck
Thickened skin over the neck[ more ]
Face with broad temples and narrow chin
Triangular facial shape[ more ]
|Wide intermamillary distance||
Widely spaced nipples
Widely-spaced nipples[ more ]
|30%-79% of people have these symptoms|
|Abnormal hair quantity||0011362|
|Abnormal pulmonary valve morphology||0001641|
|Abnormality of coagulation||0001928|
|Abnormality of the spleen||0001743|
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat[ more ]
Coarse hair texture
Undescended testes[ more ]
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
|Feeding difficulties in infancy||0008872|
|Low posterior hairline||
Low hairline at back of neck
Low or weak muscle tone
Squint eyes[ more ]
|5%-29% of people have these symptoms|
|Aplasia of the semicircular canal||0011381|
Short fingers or toes
|Clinodactyly of the 5th finger||
Permanent curving of the pinkie finger
Decreased activity of gonads
Swelling caused by excess lymph fluid under skin
Involuntary, rapid, rhythmic eye movements
Fused forearm bones
|Sensorineural hearing impairment||0000407|
|1%-4% of people have these symptoms|
|Atrial septal defect||
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers[ more ]
Easy bruising[ more ]
Prominent eye folds[ more ]
Enlarged and thickened heart muscle
Mental retardation, nonspecific
Mental-retardation[ more ]
Low set ears
Lowset ears[ more ]
Narrowing of pulmonic valve
Decreased length of neck
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the vertebral column||
Abnormal vertebral column
Abnormality of the spine[ more ]
Permanent curving of the finger
|Coarctation of aorta||
Narrowing of aorta
Narrowing of the aorta[ more ]
Outward turned elbows
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches[ more ]
|Failure to thrive in infancy||
Faltering weight in infancy
Weight faltering in infancy[ more ]
|High, narrow palate||
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth[ more ]
Nearsightedness[ more ]
|Patent ductus arteriosus||0001643|
|Pectus excavatum of inferior sternum||0000915|
|Postnatal growth retardation||
Growth delay as children
|Radial deviation of finger||0009466|
|Reduced factor XII activity||0004841|
|Reduced factor XIII activity||0008357|
|Superior pectus carinatum||0000917|
|Ventricular septal defect||
Hole in heart wall separating two lower heart chambers
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.
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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The differential diagnosis should include Turner syndrome, cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1 (NF1) and LEOPARD syndrome (see these terms).
Visit the Orphanet disease page for more information.
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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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