09/04/2021
Paytens doctor from genetics called and she has Noonan syndrome
It is one of the most common non-chromosomal disorders in children with congenital heart disease, with an estimated prevalence worldwide of 1 in 1000-2500. The average age at diagnosis is nine years, and life expectancy is likely normal if serious cardiac defects are absent.
Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.Symptoms
Features of Noonan syndrome may include a distinctive facial appearance, short stature , a broad or webbed neck, congenital heart defects , bleeding problems, problems with bone structure (skeletal malformations), and developmental delay .
behavioural problems – some children with Noonan syndrome may be fussy eaters, behave immaturely compared to children of a similar age, have problems with attention and have difficulty recognising or describing their or other people's emotions.In the majority of cases Noonan syndrome is an autosomal dominant genetic disorder caused by abnormalities (mutations) in more than eight genes. The five most commonly involved genes are: PTPN11 (50%), SOS1 (10-13%), RAF1 (5%), RIT1 (5%), and KRAS (less than 5%).
To stay in contact with my little girls health
