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A review of craniofacial and dental findings of the RASopathies
H Cao1,2, N Alrejaye2, O D Klein2,3
1Department of Oral and Maxillofacial Surgery, State Key Laboratory of Oral Diseases and Branch of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan, China.
Objectives:
The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Although the craniofacial features have been well described and can aid in clinical diagnosis, the dental phenotypes have not been analysed in detail for each of the RASopathies. In this review, we summarize the clinical features of the RASopathies, highlighting the reported craniofacial and dental findings.
Methods:
Review of the literature.
Results:
Each of the RASopathies reviewed, caused by mutations in genes that encode different proteins in the Ras pathway, have unique and overlapping craniofacial and dental characteristics.
Conclusions:
Careful description of craniofacial and dental features of the RASopathies can provide information for dental clinicians treating these individuals and can also give insight into the role of Ras signalling in craniofacial development.
Insights
RASopathies, genetic disorders affecting the Ras/MAPK pathway, present distinct craniofacial and dental features. Understanding these characteristics is crucial for diagnosis and insight into craniofacial development.
Area of Science:
- Genetics and Developmental Biology
- Syndromology
- Craniofacial and Dental Medicine
Background:
- RASopathies are a group of genetic syndromes caused by mutations in the Ras/mitogen-activated protein kinase (MAPK) pathway.
- These syndromes, including Noonan syndrome and neurofibromatosis type 1, affect multiple systems, notably the craniofacial complex.
- While craniofacial features are recognized, detailed analysis of dental phenotypes across RASopathies is lacking.
Purpose of the Study:
- To review and summarize the clinical features of various RASopathies.
- To highlight the specific craniofacial and dental findings associated with each RASopathy.
- To provide a comprehensive overview of dental phenotypes in the context of RASopathies.
Main Methods:
- A comprehensive review of existing medical literature was conducted.
- Data on craniofacial and dental characteristics were systematically extracted and analyzed.
- Syndromes reviewed include Noonan syndrome, LEOPARD syndrome, NF1, Costello syndrome, CFC syndrome, Legius syndrome, and CM-AVM.
Main Results:
- Each RASopathy exhibits unique and overlapping craniofacial and dental characteristics.
- Mutations in different Ras pathway genes lead to distinct phenotypic expressions.
- Dental findings, though varied, are a consistent component of the RASopathy spectrum.
Conclusions:
- Detailed documentation of craniofacial and dental features aids in the clinical diagnosis of RASopathies.
- Understanding these phenotypes offers valuable insights into the role of Ras signaling in craniofacial development.
- This information is essential for dental clinicians managing patients with RASopathies.
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