Save information for later
Sign Up

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.
Not sure about your diagnosis?
Check Your Symptoms
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?
Joseph D. Fakhoury
Experienced in RASopathies
Experienced in RASopathies
1000 Oakland Dr, 
Kalamazoo, MI 
 (0.9 mi)
Languages Spoken:
English
Accepting New Patients

Joseph Fakhoury is a Pediatrics provider in Kalamazoo, Michigan. Dr. Fakhoury and is rated as an Experienced provider by MediFind in the treatment of RASopathies. His top area of expertise is RASopathies. Dr. Fakhoury is currently accepting new patients.

Experienced in RASopathies
Experienced in RASopathies

Bronson Methodist Hospital

601 John St, 
Kalamazoo, MI 
 (0.6 mi)
Languages Spoken:
English
Accepting New Patients

Kelly Ybema is a Neurologist in Kalamazoo, Michigan. Dr. Ybema and is rated as an Experienced provider by MediFind in the treatment of RASopathies. Her top areas of expertise are Migraine, Drug Induced Dyskinesia, Morgagni-Stewart-Morel Syndrome, and SOST-Related Sclerosing Bone Dysplasia. Dr. Ybema is currently accepting new patients.

 
 
 
 
Learn about our expert tiers
Learn More
Experienced in RASopathies
Hand Surgery
Experienced in RASopathies
Hand Surgery

Bronson Methodist Hospital

601 John St, Suite 230, 
Kalamazoo, MI 
 (0.6 mi)
Languages Spoken:
English
Accepting New Patients

James Smith is a Hand Surgeon in Kalamazoo, Michigan. Dr. Smith and is rated as an Experienced provider by MediFind in the treatment of RASopathies. His top areas of expertise are Ganglion Cyst, Carpal Tunnel Syndrome, Dupuytren Contracture, Trigger Thumb, and Fasciotomy. Dr. Smith 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...

Match to trials
Find the right clinical trials for you in under a minute
Get started
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.