RASopathies

congenital, genetically widespread disease considered to be a type of dwarfism affecting boys and girls equally

vascular anomaly

type of neurofibromatosis disease

rare autosomal dominant,[3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11)

syndrome characterized by craniofacial dysmorphology, cardiac defects, mild intellectual disability, and high birth weight followed by a failure to thrive and developmental delays

rare genetic skin pigmentation disorder characterized by multiple cafe-au-lait macules

The RASopathies are a group of developmental syndromes caused by germline mutations in genes belonging to the Ras/MAPK pathway. Common features include intellectual disability, congenital heart defects, skin abnormalities, and craniofacial abnormalities.

Human disease