cardiofaciocutaneous syndrome

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Information

Disease name: cardiofaciocutaneous syndrome
Disease ID: DOID:0060233
Description: "A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes." [url:http\://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome, url:http\://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract]

Disease area statistics

Chromosome band

Gene symbol	Chromosome	Start	Stop	The number of variant
BRAF	7	140,719,337	140,924,929	100
KRAS	12	25,205,246	25,250,929	16

Annotation

NCT ID	Status	Phase	Summary	Start date	Completion date
NCT04395495	Recruiting		RASopathy Biorepository	June 27, 2017	December 2065
NCT04888936	Recruiting		Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies	April 25, 2022	January 31, 2025
NCT05361811	Recruiting	N/A	Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial	January 10, 2024	October 1, 2024