RASopathies
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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?
    Elite in RASopathies
    Dr. Bruce D. Gelb
    Pediatric Cardiology
    Elite in RASopathies
    Dr. Bruce D. Gelb
    Pediatric Cardiology
    Referral may be required

    Mount Sinai

    1 Gustave L Levy Pl, 
    New York, NY 
    212-241-8662
    Languages Spoken:
    English
    See accepted insurances
    Accepting New Patients

    Bruce Gelb is a Pediatric Cardiologist practicing medicine in New York, New York. Dr. Gelb is rated as an Elite provider by MediFind in the treatment of RASopathies. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses RASopathies, Congenital Heart Disease (CHD), Cardiomyopathic Lentiginosis, Noonan Syndrome, and Heart Transplant. Dr. Gelb is currently accepting new patients.

    Elite in RASopathies
    Elite in RASopathies
    Referral may be required
    Leipziger Str. 44, 
    Magdeburg, ST, DE 

    Martin Zenker practices practicing medicine in Magdeburg, Germany. Mr. Zenker is rated as an Elite expert by MediFind in the treatment of RASopathies. He is also highly rated in 61 other conditions, according to our data. His clinical expertise encompasses RASopathies, Noonan Syndrome, 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
    Referral may be required

    Nemours DuPont Hospital For Children

    1600 Rockland Road, Department Of General Pediatrics, 
    Wilmington, DE 
    302-651-4000
    Languages Spoken:
    English
    See accepted insurances
    Accepting New Patients

    Karen Gripp is a Medical Genetics provider practicing medicine in Wilmington, Delaware. Dr. Gripp is rated as an Elite provider by MediFind in the treatment of RASopathies. She is also highly rated in 121 other conditions, according to our data. Her clinical expertise encompasses Costello Syndrome, RASopathies, Noonan Syndrome, and Gingival Fibromatosis with Hypertrichosis. Dr. Gripp is currently accepting new patients.

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    What are the latest RASopathies Clinical Trials?
    A Phase 2, Randomized, Multicenter, Study of Vosoritide in Children With Noonan Syndrome With Inadequate Growth During or After Human Growth Hormone Treatment
    A Phase 2, Randomized, Multicenter, Study of Vosoritide in Children With Noonan Syndrome With Inadequate Growth During or After Human Growth Hormone Treatment
    Enrollment Status: Recruiting
    Publish Date: August 24, 2026
    Intervention Type: Drug
    Study Phase: Phase 2

    Summary: The purpose of this study in children with Noonan syndrome is to evaluate the effect of 3 doses of vosoritide 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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    Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Phase III Randomized Controlled Trial
    Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Phase III Randomized Controlled Trial
    Enrollment Status: Recruiting
    Publish Date: August 24, 2026
    Intervention Type: Behavioral
    Study Phase: Not Applicable

    Background: RASopathies are a group of genetic diseases that affect a child s development. They cause physical, cognitive, and behavioral symptoms. Caring for a child with a RASopathy can be stressful. Acceptance and Commitment Therapy (ACT) is a therapy that helps people become more aware and accepting of difficult thoughts and feelings. ACT has been found to be helpful for parents with high parenting stress...

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