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RASopathies Study

RASopathy Syndromes

Noonan Syndrome

Noonan Syndrome is a genetic disorder which may be caused by variants in one of several Ras/MAPK pathway genes, including PTPN11, SOS1, RAF1 and KRAS.

Costello Syndrome

Costello Syndrome (CS) is a genetic disorder caused by variants in a gene called HRAS.

Cardiofaciocutaneous

Cardiofaciocutaneous Syndrome (CFC) is a genetic disorder typically caused by variants in one of several genes, most commonly KRAS, RAF1, MAP2K1 (MEK1), MAP2K2 (MEK2) or BRAF.

Legius Syndrome

Legius Syndrome (LS) is a genetic disorder caused by variants in the SPRED1 gene.

Capillary Arteriovenous Malformation

Capillary arteriovenous malformation syndrome (Cap-AVM) is a genetic syndrome caused by variants in the RASA1 (p120-RAS GAP) gene.

Other RASopathy syndromes

Hereditary Gingival Fibromatosis (HGF) and SYNGAP1 syndrome are not as well known and thus not well defined in the literature.