Noonan S

Miranda & Lilou

Treatments, now or in the future ?

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Is it symptomatic, progressive ?

How many people are affected ?

• Noonan syndrome is a genetic condition that stops typical development in various parts of the body

How long ?

What are the symptoms ?

Noonan syndrome

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History of discovery

Who were the first patients ?

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Jacqueline Noonan studied the subject, and presented a clinical study of :

• associated non-cardiac malformations in children with congenital heart disease at the Midwest Society for Pediatric Research.
• she also described nine patients that shared distinctive facial features and who had a short stature, pulmonary stenosis and significant chest deformities.

Growth hormones to stimulate growth, help attaining normal height and bone shape and structure (weakless, win strength). So far, no test can predict whether you will develop one or more oh these problems before they begin to affect the body. Regularly scheduled medical visits can identify emerging problems

Unusual facial features, short stature with restricted growth, congenital heart disease Also : - Weak bones- Learning disabilities (slightly lower than average IQ) - Feeding (baby) and behavioral issues.

At least 8 different genes are linked to Noonan Syndrome. The most 3 common ones are :-PTPN 11 gene (chrom 12)-SOS1 gene (chrom 2)-RIT1 gene (chrom 1) The PTPN11 gene common mutations are : -Gly12Asp : 35G --> A -Gly16Asp : 182A --> G In 35-75% of cases, Noonan is inherited, it is an autosomal dominant pattern

The first patient was reported by Kobylinski in 1883. The individual in question was a 20-year old male with marked webbing of the neck, which was a feature that seemed to prompt a majority of the early reports. In 1902, Funke described a patient with a webbed neck, who also presented with a short stature, a deformity of the elbow, undersized jaw and other minor abnormalities. This publication was followed by a report by Ullrich in 1930 who described an 8-year old girl with similar features.