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Disease Profile
Noonan syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000
Age of onset
Childhood
ICD-10
Q87.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Male Turner Syndrome; Noonan-Ehmke syndrome; Ullrich-Noonan syndrome;
Categories
Blood Diseases; Congenital and Genetic Diseases; Endocrine Diseases;
Summary
Noonan
Noonan syndrome belongs to a group of related conditions called the RASopathies. These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development. Other conditions in this group include:[4]
- neurofibromatosis type 1
- LEOPARD syndrome, also called Noonan syndrome with multiple lentigines
- Costello syndrome
- cardiofaciocutaneous syndrome
- Legius syndrome
- capillary malformation–arteriovenous malformation syndrome
Symptoms
- Head/Neck:
- Widely spaced eyes (hypertelorism)
- Large ears rotated back
- Short webbed neck
- Droopy eyelids (
ptosis ) - Low hairline
- Multiple giant
cell lesions (MGCL): painless, benign growths in the jaw that can lead to dental or orthodontic issues
- Heart:
- Pulmonary stenosis
- Aortic regurgitation
- Atrial septal defect
- Skeletal:
Short stature - Concave chest (pectus excavatum)
- Bending or curvature of the finger (clinodactyly)
- Weak bones (generalized osteopenia)
- Skin:
- Café au lait spots
- Hemangioma (raised red birthmark)
- Neurological:
- Delayed milestones due to low muscle tone
Developmental delay - Learning disabilities or intellectual impairment
- Bleeding disorder
- Undescended testicles (cryptorchidism)
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.[5]
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 |
Learn More:
HPO ID
|
|
---|---|---|---|
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 ] |
0010318 | |
Cystic hygroma | 0000476 | ||
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 | |
Difficulty articulating speech
|
0001260 | ||
Enlarged thorax |
Wide rib cage
|
0100625 | |
High forehead | 0000348 | ||
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 | |
Hypogonadotropic |
0000044 | ||
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 | |
Low-set, posteriorly rotated ears | 0000368 | ||
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | ||
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 | |
Muscle weakness |
Muscular weakness
|
0001324 | |
Pectus carinatum |
Pigeon chest
|
0000768 | |
Pectus excavatum |
Funnel chest
|
0000767 | |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 | |
Ptosis |
Drooping upper eyelid
|
0000508 | |
Pulmonary artery stenosis |
Narrowing of lung artery
|
0004415 | |
Short stature |
Small stature
Decreased body height
[ more ] |
0004322 | |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 | |
Thickened helices | 0000391 | ||
Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ] |
0000474 | |
Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ] |
0000325 | |
Webbed neck |
Neck webbing
|
0000465 | |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] |
0006610 | |
30%-79% of people have these symptoms | |||
Abnormal bleeding |
Bleeding tendency
|
0001892 | |
Abnormal dermatoglyphics |
Abnormal fingerprints
|
0007477 | |
Abnormal hair quantity | 0011362 | ||
Abnormal |
0011869 | ||
Abnormal pulmonary valve morphology | 0001641 | ||
Abnormality of coagulation | 0001928 | ||
Abnormality of the spleen | 0001743 | ||
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 | |
Coarse hair |
Coarse hair texture
|
0002208 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 | |
Feeding difficulties in infancy | 0008872 | ||
Hepatomegaly |
Enlarged liver
|
0002240 | |
Low posterior hairline |
Low hairline at back of neck
|
0002162 | |
Muscular |
Low or weak muscle tone
|
0001252 | |
0002650 | |||
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | ||
5%-29% of people have these symptoms | |||
Aplasia of the semicircular canal | 0011381 | ||
Short fingers or toes
|
0001156 | ||
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 | |
Hypogonadism |
Decreased activity of gonads
|
0000135 | |
Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 | |
Melanocytic nevus |
Beauty mark
|
0000995 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | ||
Radioulnar synostosis |
Fused forearm bones
|
0002974 | |
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 ] |
0001631 | |
Bruising |
Bruise easily
DiagnosisMaking 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. Testing Resources
Treatment Management of Noonan
Developmental disabilities are addressed by early intervention programs. Some children with Noonan syndrome may need special help in school, including for example, an individualized educational program (IEP).[3] Treatment for bleeding problems depends on the cause.[3] Growth Management Guidelines
FDA-Approved TreatmentsThe medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
Related diseasesRelated 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.
OrganizationsSupport 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. Organizations Supporting this Disease
Learn moreThese 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. Where to Start
In-Depth Information
References
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