Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.
Comprehensive, easy-to-understand information about this condition
How we create this content →Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
Documentation on Noonan syndrome is limited due to its relative rarity and the ongoing nature of clinical characterization. As the condition affects fewer than 10,000 individuals, systematic studies have been scarce. Additionally, the genetic basis of NS involves multiple genes, which complicates the understanding of its full clinical spectrum. Continued research efforts are essential for better insights into this condition.
To navigate Noonan syndrome effectively, consider seeking a geneticist or a pediatric cardiologist with experience in RASopathies. These specialists can provide tailored guidance and management options. Additionally, the RASopathies Network (https://rasopathiesnet.org) offers resources and support for individuals affected by this condition. You may also inquire about participating in patient registries or natural history studies to contribute to ongoing research and gain access to new information. Genetic counseling is recommended to understand the implications of the known genes associated with Noonan syndrome.
Currently, there are 24 active clinical trials related to Noonan syndrome. These trials explore various aspects of the condition and may provide opportunities for patients to participate in cutting-edge research. You can find more information about these trials at https://clinicaltrials.gov/search?cond=Noonan%20syndrome. While there are no orphan drug designations for NS at this time, the active research landscape offers hope for future treatment options.
Actionable guidance for navigating care for Noonan syndrome
To navigate Noonan syndrome effectively, consider seeking a geneticist or a pediatric cardiologist with experience in RASopathies. These specialists can provide tailored guidance and management options. Additionally, the RASopathies Network (https://rasopathiesnet.org) offers resources and support for individuals affected by this condition. You may also inquire about participating in patient registries or natural history studies to contribute to ongoing research and gain access to new information. Genetic counseling is recommended to understand the implications of the known genes associated with Noonan syndrome.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Noonan syndrome community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
Organizations with orphan designations or approved therapies for this disease