How is Noonan syndrome 11 inherited?

Noonan syndrome 11 follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How is Noonan syndrome 11 diagnosed?

Information about diagnosis is currently limited for this condition. People with features that suggest a Noonan syndrome type may undergo a variety of genetic and clinical tests to clarify the diagnosis.

Are there treatments for Noonan syndrome 11?

Information about treatment is currently limited for this condition. In general, treatment and management for rare genetic disorders are often tailored to address the symptoms and complications that a person experiences.

What complications might arise from Noonan syndrome 11?

Information about specific complications related to Noonan syndrome 11 is currently limited. However, since it is part of the broader Noonan syndrome spectrum, individuals may face various health challenges. It's important for families to work closely with healthcare providers to monitor any potential issues as they arise.

How can Noonan syndrome 11 affect daily life?

Details about how Noonan syndrome 11 impacts daily life are not fully known yet. Each person's experience can be different, and some may need support in certain areas like education or healthcare. Families are encouraged to seek resources and support to help manage daily activities effectively.

What is the long-term outlook for someone with Noonan syndrome 11?

The long-term outlook for individuals with Noonan syndrome 11 is not well defined at this time. Since information about prognosis is limited, it can vary widely among individuals. Regular check-ups and personalized care can help improve quality of life.

Are there any specialists recommended for managing Noonan syndrome 11?

Currently, there are no specific specialists mentioned for Noonan syndrome 11. However, families may benefit from consulting with geneticists, pediatricians, or specialists familiar with Noonan syndromes. These experts can provide tailored care and guidance based on the individual's needs.

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Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

Noonan syndrome 11 (NS11) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Noonan syndrome 11

MONDO:0032786

Also known as:NS11

Overview

GeneticsAutosomal dominant · MRAS (chr 3)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Relative macrocephaly, Thick vermilion border, Hypertelorism, and Bulbous nose and others; and common findings: Palmoplantar cutis laxa, Short stature, Low muscle tone (hypotonia), and Pulmonic stenosis and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Delayed speech and language development, Global developmental delay, Depressed nasal bridge

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MRAS encodes muscle RAS oncogene homolog (208 aa). Signal transducer in the Ras-MAPK signaling pathway that regulates cell proliferation and survival. Highest expression in Nerve Tibial (114.6 TPM) and Brain Nucleus accumbens basal ganglia (69.5 TPM).

Noonan syndrome 11 is associated with mutations in the MRAS gene on chromosome 3.

The MRAS protein participates in MRAS mutants:GTP, S-GCC MRAS mutants:GTP:SHOC2:PP1, and S-GCC MRAS:GTP:SHOC2:PP1 pathways.

MRAS is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for Noonan syndrome have been published. Diagnostic scoring systems, most recently published in and embedded in the management guidelines developed by DYSCERNE in the United Kingdom , have been proposed but have not been used extensively in North America.

Suggestive Findings

Noonan syndrome (NS) should be suspected in individuals with the following clinical, laboratory, and family history findings.

Clinical findings

Source:

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Noonan syndrome 11. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Management guidelines have been developed by DYSCERNE, a European consortium (full text); a separate set has been published by the American Academy of Pediatrics working with the Noonan Syndrome Support Group and in the Lancet . Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Noonan syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 6. Noonan Syndrome: Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 8. Noonan Syndrome: Recommended Surveillance

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Noonan syndrome 11.

95 publications have been identified in PubMed for Noonan syndrome 11. Research spans Case Report / Case Series (28%), Epidemiology / Natural History (26%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Patient case studies	26	28%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618499

GARD

Genetic and Rare Diseases Info Center

GARD:16357

Questions for Your Care Team

→Should I pursue genetic testing for MRAS, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Noonan syndrome 11

Noonan syndrome 11, also known as NS11, is a rare genetic condition that is recognized by medical databases such as OMIM and GARD. Although detailed descriptions are limited, this condition is noted in reputable sources and is part of the broader spectrum of Noonan syndromes. Information about the overall features of this condition is still emerging. People with this condition may undergo genetic evaluations to better understand its nature. Research is ongoing, and experts continue to update the understanding of Noonan syndrome 11 as additional data become available.

Information about symptoms is currently limited for this condition.

Current evidence suggests that Noonan syndrome 11 is linked to changes in the MRAS gene. Variations in this gene have been observed in people with this rare condition. However, further research is needed to fully understand the genetic causes and any other potential risk factors related to this condition. Associated genes include MRAS.

← Back to All Diseases

GeneReviews

Clinical Guidance

To date, including those with a clinical and a molecular genetic diagnosis and with an estimated incidence of 1:1000-1:2500, several thousand individuals have been identified with Noonan syndrome (NS) . The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Noonan Syndrome: Frequency of Select Features

Feature	% of Personsw/Feature	Comment
Eye anomalies	95%	—
Short stature	50%-70%	For age, sex, family background
Hypotonia	Majority	Can contribute to feeding problems, speech articulation issues, delayed attainment of gross motor milestones
Joint hyperextensibility	Majority	—
Pectus anomaly	Majority	Characteristic pectus deformity of the chest: pectus carinatum superiorly pectus excavatum inferiorly
Cryptorchidism in males	60%-80%	—
Congenital heart disease	50%-80%	25%-71% of affected persons have pulmonary valve stenosis, often w/pulmonary valve dysplasia.
Hearing loss	40%	May be sensorineural, conductive, or mixed
Hypertrophic cardiomyopathy	10%-29%	Half of those w/hypertrophic cardiomyopathy are diagnosed by age 6 mos.
Learning disability	25%	~10%-15% of those w/NS require special education.
Intellectual disability1	6%-23% Renal anomalies	11%
Abnormal bleeding or bruising	Bleeding: 6%-10%; bruising: majority	1. Defined as IQ 70 Prenatal features. Advanced paternal age has been observed in cohorts with simplex NS.

Source: GeneReviews — "Noonan Syndrome"

System/Concern	Evaluation	Comment
Constitutional	Measurements of growth parameters	On NS-specific growth charts; To identify those w/failure to thrive /or short stature
Endocrine	Bone age, growth hormone thyroid function studies1	In children w/short stature (height 2 SD below standard growth curve or crossing 2 major height %iles) Gastrointestinal/
Feeding	Gastroenterology / nutrition / feeding team eval	In infants w/poor weight gain, dysphagia; Eval for malrotation if persistent unexplained vomiting
Development	Developmental assessment	To incl:; Motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education Psychiatric/
Behavioral	Neuropsychiatric eval may be considered.	For those age 12 mos: screen for behavior concerns, autism, depression, ADHD, anxiety (some symptoms may not be present until adulthood).
Cardiovascular	Echocardiogram EKG	To identify congenital heart defects, cardiomyopathy, /or cardiac conduction abnormalities
Genitourinary	Kidney ultrasound	To assess for renal anomalies; if present, referral to urologist Assessment for cryptorchidism in males
Musculoskeletal	PT/OT eval	To incl:; Assessment of gross motor fine motor skills Consider radiographs of the spine if asymmetry or scoliosis is present on physical exam.
Lymphatic	In consultation w/hematologist: bleeding history, CBC w/differential, PT/aPTT, factor XI, XII, IX, VIII, vWf, platelet aggregation testing	If initial screening was performed before age 12 mos, repeat after age 12 mos.2
Eyes	Ophthalmologic eval	To assess for amblyopia, refractive error, nystagmus, strabismus, clinically significant ptosis
Hearing	Audiologic eval	Assess for hearing loss middle ear effusion.
Integument	Full skin exam	Consider referral to dermatologist in those w/multiple lentigines requiring monitoring or significant xeroderma.3
Neurologic	Neurologic eval	To incl brain spine MRI if signs or symptoms consistent w/possible Chiari malformation Genetic
counseling	By genetics professionals4	To obtain a pedigree inform affected persons their families re nature, MOI, implications of NS to facilitate medical personal decision making Family support resources
Noonan Syndrome: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other
Short stature	GH therapy may be considered.	No standard dose has been established.; No apparent correlation between dosage used final height, though earlier age at initiation of GH therapy is assoc w/ final adult height.; Short stature due to NS is an FDA-approved indication for GH treatment.
difficulties	Consideration of nasogastric tube feedings in infants w/poor growth, esp if they have a congenital heart defect or cardiomyopathy	Invasive intervention (i.e., placement of gastrostomy tube) may be needed, though feeding issues are often self-limited. DD/ID

Kisho

Noonan syndrome 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Noonan syndrome 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Noonan syndrome 11?

What are the symptoms of Noonan syndrome 11?

What causes Noonan syndrome 11?

How is Noonan syndrome 11 inherited?

How is Noonan syndrome 11 diagnosed?

Are there treatments for Noonan syndrome 11?

What complications might arise from Noonan syndrome 11?

How can Noonan syndrome 11 affect daily life?

What is the long-term outlook for someone with Noonan syndrome 11?

Are there any specialists recommended for managing Noonan syndrome 11?

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications