RASopathies Overview

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Learn About RASopathies

What is the definition of RASopathies?
RASopathies are a group of rare syndromes causes by mutations in the genes that make proteins for the Ras/MAPK cell signaling pathway. This pathway controls cell functions such as cell growth, cell maturation, and cell death. There are several types of RASopathy syndromes, including cardiofaciocutaneous syndrome, Costello syndrome, Legius syndrome, neurofibromatosis type 1, Noonan syndrome, and capillary malformation-arteriovenous malformation syndrome.
What are the symptoms of RASopathies?
Symptoms of RASopathies depend on the type. Symptoms of RASopathies include facial, eye, skin, muscle, bone, nervous system, heart, and gastrointestinal abnormalities; learning disabilities; and developmental delays. Individuals with RASopathies may also have an increased risk of cancer.
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What are the different types of RASopathies?

Common conditions include: Cardiofaciocutaneous Syndrome, Cardiomyopathic Lentiginosis, Costello Syndrome, Legius Syndrome

    What are the current treatments for RASopathies?
    Treatment for RASopathies includes selumetinib and RAS targeted therapies.
    Who are the top RASopathies Local Doctors?
    Bruce D. Gelb
    Elite in RASopathies
    Dr. Bruce D. Gelb
    Pediatric Cardiology | Pediatrics
    Elite in RASopathies
    Dr. Bruce D. Gelb
    Pediatric Cardiology | Pediatrics

    Icahn School Of Medicine At Mount Sinai

    1 Gustave L Levy Pl, 
    New York, NY 
    212-731-6870
    Languages Spoken:
    English
    See accepted insurances

    Bruce Gelb is a Pediatric Cardiologist and a Pediatrics provider in New York, New York. Dr. Gelb is rated as an Elite provider by MediFind in the treatment of RASopathies. His top areas of expertise are RASopathies, Congenital Heart Disease (CHD), Cardiomyopathic Lentiginosis, Noonan Syndrome, and Heart Transplant.

    Elite in RASopathies
    Martin Zenker
    Elite in RASopathies
    Martin Zenker
    Leipziger Str. 44, 
    Magdeburg, ST, DE 

    Martin Zenker practices in Magdeburg, Germany. Mr. Zenker is rated as an Elite expert by MediFind in the treatment of RASopathies. His top areas of expertise are Noonan Syndrome, RASopathies, Syndactyly, and Acromicric Dysplasia.

     
     
     
     
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    Elite in RASopathies
    Dr. Karen W. Gripp
    Medical Genetics
    Elite in RASopathies
    Dr. Karen W. Gripp
    Medical Genetics
    A.i. Dupont Hospital For Children, 1600 Rockland Road, 
    Wilmington, DE 
    302-651-4000
    Languages Spoken:
    English
    See accepted insurances
    Accepting New Patients

    Karen Gripp is a Medical Genetics provider in Wilmington, Delaware. Dr. Gripp is rated as an Elite provider by MediFind in the treatment of RASopathies. Her top areas of expertise are Costello Syndrome, RASopathies, Noonan Syndrome, and Cardiofaciocutaneous Syndrome. Dr. Gripp is currently accepting new patients.

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    What are the latest RASopathies Clinical Trials?
    Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
    Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
    Enrollment Status: Recruiting
    Publish Date: October 06, 2025

    Background: RASopathies are a group of conditions caused by a genetic change. People with a RASopathy may have developmental issues, cognitive disability, poor growth, and birth defects. They may also have an increased risk for developing cancer. Researchers want to learn more.

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    A Phase 2, Randomized, Human Growth Hormone-Controlled, Multicenter, Basket Study of Vosoritide in Children With Turner Syndrome, Short Stature Homeobox-Containing Gene Deficiency, and Noonan Syndrome With an Inadequate Response to Human Growth Hormone. (CANOPY NS, TS, SHOX-D-2)
    A Phase 2, Randomized, Human Growth Hormone-Controlled, Multicenter, Basket Study of Vosoritide in Children With Turner Syndrome, Short Stature Homeobox-Containing Gene Deficiency, and Noonan Syndrome With an Inadequate Response to Human Growth Hormone. (CANOPY NS, TS, SHOX-D-2)
    Enrollment Status: Recruiting
    Publish Date: August 06, 2025
    Intervention Type: Drug
    Study Phase: Phase 2

    Summary: The purpose of this basket study in children with Turner syndrome, SHOX deficiency, and Noonan syndrome is to evaluate the effect of 3 doses of vosoritide versus hGH on growth as measured by AGV after 6 months of treatment. The long-term efficacy and safety of vosoritide at the therapeutic dose will be evaluated up to FAH.

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