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Background: RASopathies is one of the largest known groups of malformation. Which affects 1 in 1,000 individuals in general. As a critical part of the genetic disorder research and the existing gaps in current research, a bibliometric study of the existing body of RASopathies condition is needed. Method: Online retrieval from the Web of Science (WoS) database was performed. The collected data were analyzed by the Excel and VosViewer to identify the top authors, top journals, main themes in RASopathies, and the trend in annual research productivity about the RASopathies condition. Results: The top author of RASopathies is Karen W Gripp and the top journal is American Journal of Medical Genetics. There are about twenty small co-authorship networks in RASophathies involving 820 authors. Further, cancer, diagnosis, and heredity are the terms that co-occurred frequently. Conclusions: Many concepts in RASopathies research appear to be nascent, or not clearly connected to the broader body of research. Much of the research about specific RASopathies appears to be related to a specific aspect of the syndromes. The field of RASopathies research may benefit from broadening the topics explored, networks of authors producing research, and the avenues through which research findings are disseminated. ReseaRch aRTicLe School of Library and Information Management, Emporia State University, USA the Ras/mitogen-activated protein kinase (MAPK) pathway”, which mainly causes Costello syndrome, Noonan Syndrome, Cardiofaciocutaneous syndrome, Capillary malformation-arteriovenous malformation (CM-AVM) syndrome, and Legius syndrome [1]. Among those, Cardiofaciocutaneous syndrome and Costello syndrome are sporadic conditions that affect 200 to 300 people worldwide; CM-AVM syndrome affects 1 in 100,000 people; Noonan syndrome affects 1 in 1,000 to 2,500 people; and the prevalence of Legius syndrome is unknown because of its similar symptoms with neurofibromatosis type 1 [2-6]. In a common underlying RAS/ MAPK pathway disorder, the RASopathies exhibits many overlapping phenotypic features that the population with RASopathies conditions generally faces a complex condition of their health, such as cardiac malformation; cutaneous, musculoskeletal, and ocular abnormalities; neurocognitive impairment; hypotonia; and an increased cancer risk [1]. As one of the largest known groups of malformation-affecting 1 in 1,000 individuals in general-large number of researchers has investigated the causes, symptoms, and treatments for symptoms of the syndromes. However, beyond these topics of etiology and diagnosis, caregivers of individuals with RASopathies also showed a strong need for information on issues such as daily care and social life [7]. Little research has been done on the topics. Check for updates

international journal of rare diseases and disorders

A Scientometric Study of Research Pertaining to the RASopathies Conditions: Costello Syndrome, Noonan Syndrome, Cardiofaciocutaneous Syndrome, Capillary Malformation-Arteriovenous Malformation Syndrome, and Legius Syndrome