Overview
RASopathies are a group of related genetic conditions caused by changes (mutations) in genes that control a key signaling pathway in the body called the RAS/MAPK pathway. This pathway acts like a communication system inside cells, helping them grow, divide, and develop normally. When genes in this pathway are altered, cells can receive too many 'grow and divide' signals, which can affect many parts of the body at once. Because of this, RASopathies are considered multi-system conditions — meaning they can impact the heart, brain, skin, muscles, bones, and more. The most well-known RASopathies include Noonan syndrome, Costello syndrome, cardio-facio-cutaneous (CFC) syndrome, Legius syndrome, and LEOPARD syndrome (also called Noonan syndrome with multiple lentigines). Each of these has its own specific features, but they share many overlapping symptoms such as distinctive facial features, heart defects, short stature, and learning differences. Some people with RASopathies also have an increased risk of certain cancers. Treatment for RASopathies is mainly focused on managing individual symptoms. There is no single cure, but many people benefit from heart surgery or medication, growth hormone therapy, educational support, and therapies for developmental delays. Research into targeted treatments that directly address the overactive RAS/MAPK pathway is ongoing, and some promising therapies are being studied in clinical trials.
Key symptoms:
Distinctive facial features such as wide-set eyes, low-set ears, and a broad foreheadHeart defects present at birth (congenital heart disease)Short stature or slow growthLearning difficulties or intellectual disability (ranges from mild to moderate)Delayed development of motor skills such as sitting, walking, or talkingSkin changes such as dark spots (lentigines), café-au-lait spots, or rough, bumpy skinLoose or flexible jointsLow muscle tone (hypotonia)Feeding difficulties in infancyIncreased risk of certain tumors or blood cancersVision or hearing problemsBleeding or clotting problemsWebbed or extra skin on the neck (pterygium colli)Chest wall abnormalities such as a sunken or raised breastboneBehavioral challenges or attention difficulties
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
6 eventsDeutsches Herzzentrum Muenchen
IRCCS Azienda Ospedaliero-Universitaria di Bologna
University of Bari Aldo Moro
Fondazione Policlinico Universitario Agostino Gemelli IRCCS — NA
Fondazione Policlinico Universitario Agostino Gemelli IRCCS — NA
Assistance Publique - Hôpitaux de Paris
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for RASopathy.
6 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to RASopathy.
Community
No community posts yet. Be the first to share your experience with RASopathy.
Start the conversation →Latest news about RASopathy
Disease timeline:
New recruiting trial: Pubertal Development in Patients with RASopathies
A new clinical trial is recruiting patients for RASopathy
New recruiting trial: Retrospective Natural History Study of RASopathy-associated Cardiomyopathy (RAS-CM)
A new clinical trial is recruiting patients for RASopathy
New recruiting trial: Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies (ECORAS2023)
A new clinical trial is recruiting patients for RASopathy
New recruiting trial: Hematological Anomalies in Children With Rasopathy
A new clinical trial is recruiting patients for RASopathy
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific RASopathy does my child or I have, and which gene is affected?,What heart tests do I need, and how often should my heart be checked?,Is growth hormone therapy appropriate for my child's short stature?,What cancer risks are associated with my specific diagnosis, and what screening do you recommend?,What early intervention or therapy services should we start right away?,Are there any clinical trials for RASopathy treatments that we might be eligible for?,Should other family members be tested for the same genetic change?
Common questions about RASopathy
What is RASopathy?
RASopathies are a group of related genetic conditions caused by changes (mutations) in genes that control a key signaling pathway in the body called the RAS/MAPK pathway. This pathway acts like a communication system inside cells, helping them grow, divide, and develop normally. When genes in this pathway are altered, cells can receive too many 'grow and divide' signals, which can affect many parts of the body at once. Because of this, RASopathies are considered multi-system conditions — meaning they can impact the heart, brain, skin, muscles, bones, and more. The most well-known RASopathies
Are there clinical trials for RASopathy?
Yes — 6 recruiting clinical trials are currently listed for RASopathy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat RASopathy?
8 specialists and care centers treating RASopathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.