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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?
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
Pediatric Cardiology | Pediatrics
Pediatric Cardiology | Pediatrics
1 Gustave L Levy Pl, Box 1201, 
New York, NY 
Languages Spoken:
English

Bruce Gelb is a Pediatric Cardiologist and a Pediatrics provider in New York, New York. Dr. Gelb and 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.

Leipziger Str. 44, 
Magdeburg, ST, DE 

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

 
 
 
 
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Medical Genetics
Medical Genetics
A.i. Dupont Hospital For Children, 1600 Rockland Road, 
Wilmington, DE 
Languages Spoken:
English
Accepting New Patients

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

What are the latest RASopathies Clinical Trials?
Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Phase III Randomized Controlled Trial

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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Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies

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.