Synonyms: FCS syndrome | Faciocutaneoskeletal syndrome
A rare syndrome with intellectual disability characterized by failure to thrive short stature joint laxity soft skin and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Costello syndrome?
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Advocacy Organizations
Cache DNA
At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
HeartCharged
Ending preventable deaths from undiagnosed heart conditions and sudden cardiac arrest, especially in young people, and providing patient-to-patient support.
Hypertrophic Cardiomyopathy Association
Providing support, advocacy, and education to patients, families, the medical community, and the public about hypertrophic cardiomyopathy and all thick heart muscle disorders, while supporting research and fostering the development of treatments.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
RASopathies Network
Our mission is to advance research to improve the quality of life for RASopathy families by bringing together clinicians, scientists, and families.
RareDNA Foundation
Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.