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Cardiofaciocutaneous syndrome MeSH Supplementary Concept Data 2023


MeSH Supplementary
Cardiofaciocutaneous syndrome
Unique ID
C535579
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535579
Entry Term(s)
Cardio-Facio-Cutaneous Syndrome
Registry Number
0
Heading Mapped to
*Ectodermal Dysplasia
*Failure to Thrive
*Heart Defects, Congenital
*Facies
Frequency
139
Note
A multiple congenital anomaly disorder characterized by a distinctive facies, INTELLECTUAL DISABILITY, and cardiovascular abnormalities that include PULMONIC STENOSIS; ATRIAL SEPTAL DEFECT, and HYPERTROPHIC CARDIOMYOPATHY. Ectodermal abnormalities such as sparse hair, skin lesions, and ICHTHYOSIS may also be present. Usually occurs sporadically, but germline mutations in the BRAF gene have been identified in some patients with CFC1. OMIM: 115150
Date of Entry
2010/08/25
Revision Date
2015/08/17
Cardiofaciocutaneous syndrome Preferred
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