Noonan syndrome.
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.
Allanson
Judith E
JE
Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada. allanson@cheo.on.ca
D019066:Facies; D006801:Humans; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology / Q000628:therapy